ClinVar Miner

List of variants in gene GM2A reported as benign for Tay-Sachs disease AB variant

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000405.4(GM2A):c.-102A>G rs2277028
NM_000405.5(GM2A):c.*1239dup rs397883774
NM_000405.5(GM2A):c.*1274dup rs397716595
NM_000405.5(GM2A):c.*1445G>A rs153450
NM_000405.5(GM2A):c.*144T>C rs9324686
NM_000405.5(GM2A):c.*1866C>T rs3806953
NM_000405.5(GM2A):c.*1994A>G rs12516391
NM_000405.5(GM2A):c.*2141C>T rs153449
NM_000405.5(GM2A):c.*227A>G rs989
NM_000405.5(GM2A):c.*2717_*2720del rs35384604
NM_000405.5(GM2A):c.*2849G>A rs10076053
NM_000405.5(GM2A):c.*28C>T rs9324685
NM_000405.5(GM2A):c.*376del rs397712620
NM_000405.5(GM2A):c.*723dup rs35982513
NM_000405.5(GM2A):c.*938G>A rs1130163
NM_000405.5(GM2A):c.*944T>C rs149174
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723

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