ClinVar Miner

List of variants reported as likely benign for Tay-Sachs disease

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.6(HEXA):c.*630A>G rs35949555
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1073+41C>T rs367719010
NM_000520.6(HEXA):c.1073+51G>A rs545676277
NM_000520.6(HEXA):c.1074-100T>C rs868411141
NM_000520.6(HEXA):c.1074-86G>A rs1050913691
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13G>A rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.253+5074C>T rs149661366
NM_000520.6(HEXA):c.253+5107G>A rs748336538
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.673-13T>C rs75211071
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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