ClinVar Miner

List of variants studied for Tay-Sachs disease AB variant by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000405.4(GM2A):c.-102A>G rs2277028
NM_000405.4(GM2A):c.-44G>A rs144932594
NM_000405.5(GM2A):c.*1239dup rs397883774
NM_000405.5(GM2A):c.*1241T>C rs541818620
NM_000405.5(GM2A):c.*1246A>G rs760209124
NM_000405.5(GM2A):c.*1274dup rs397716595
NM_000405.5(GM2A):c.*1362G>C rs886060273
NM_000405.5(GM2A):c.*1410A>C rs181014044
NM_000405.5(GM2A):c.*1445G>A rs153450
NM_000405.5(GM2A):c.*144T>C rs9324686
NM_000405.5(GM2A):c.*1695C>A rs115956086
NM_000405.5(GM2A):c.*1829C>T rs3806952
NM_000405.5(GM2A):c.*1866C>T rs3806953
NM_000405.5(GM2A):c.*188A>T rs886060269
NM_000405.5(GM2A):c.*1899G>C rs886060274
NM_000405.5(GM2A):c.*1994A>G rs12516391
NM_000405.5(GM2A):c.*2113G>A rs886060275
NM_000405.5(GM2A):c.*2141C>T rs153449
NM_000405.5(GM2A):c.*226C>T rs537947985
NM_000405.5(GM2A):c.*227A>G rs989
NM_000405.5(GM2A):c.*241C>T rs377505668
NM_000405.5(GM2A):c.*2430T>C rs3734041
NM_000405.5(GM2A):c.*245G>A rs542291291
NM_000405.5(GM2A):c.*2479C>T rs886060276
NM_000405.5(GM2A):c.*2519G>A rs138240164
NM_000405.5(GM2A):c.*2529G>A rs747946670
NM_000405.5(GM2A):c.*2550C>T rs886060277
NM_000405.5(GM2A):c.*255C>T rs75026189
NM_000405.5(GM2A):c.*2624C>T rs886060278
NM_000405.5(GM2A):c.*2643G>T rs114108271
NM_000405.5(GM2A):c.*2695G>A rs770518416
NM_000405.5(GM2A):c.*2717_*2720del rs35384604
NM_000405.5(GM2A):c.*274A>G rs886060270
NM_000405.5(GM2A):c.*2767C>T rs117832237
NM_000405.5(GM2A):c.*2801A>G rs111935946
NM_000405.5(GM2A):c.*2849G>A rs10076053
NM_000405.5(GM2A):c.*28C>T rs9324685
NM_000405.5(GM2A):c.*356C>A rs189626755
NM_000405.5(GM2A):c.*376del rs397712620
NM_000405.5(GM2A):c.*401G>A rs116809628
NM_000405.5(GM2A):c.*426C>T rs370699960
NM_000405.5(GM2A):c.*536G>T rs151210034
NM_000405.5(GM2A):c.*568G>A rs886060271
NM_000405.5(GM2A):c.*704T>A rs569818818
NM_000405.5(GM2A):c.*722_*723dup rs35982513
NM_000405.5(GM2A):c.*723dup rs35982513
NM_000405.5(GM2A):c.*824C>A rs186626408
NM_000405.5(GM2A):c.*860C>T rs368971605
NM_000405.5(GM2A):c.*868T>C rs886060272
NM_000405.5(GM2A):c.*938G>A rs1130163
NM_000405.5(GM2A):c.*944T>C rs149174
NM_000405.5(GM2A):c.-7C>G rs371628812
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740
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.254T>G (p.Val85Gly) rs143999954
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994

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