ClinVar Miner

List of variants in gene HEXA reported as pathogenic by Myriad Women's Health, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
GRCh37/hg19 15q23(chr15:72662932-72670877)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954

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