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rs606231158

From SNPedia

ClinVar
Risk
Alt
Reference Rs606231158(CAGATGCTCC;CAGATGCTCC)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528948_34528957delGAGCATCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005658.4,