ClinVar Miner

List of variants in gene HEXA reported as benign for Tay-Sachs disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000520.5(HEXA):c.*515G>A rs3087652
NM_000520.5(HEXA):c.*589T>G rs11629508
NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.5(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.5(HEXA):c.9C>T (p.Ser3=) rs1800428

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