ClinVar Miner

List of variants reported as other for Tay-Sachs disease by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970

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