ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NM_000520.5(HEXA):c.1073C>T (p.Thr358Met)
NM_000520.5(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)

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