ClinVar Miner

List of variants in gene GM2A studied for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000405.5(GM2A):c.*944T>C rs149174 0.64518
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_000405.5(GM2A):c.*227A>G rs989 0.40371
NM_000405.5(GM2A):c.*2141C>T rs153449 0.36881
NM_000405.5(GM2A):c.*1445G>A rs153450 0.25029
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_000405.5(GM2A):c.*1994A>G rs12516391 0.21184
NM_000405.5(GM2A):c.*1866C>T rs3806953 0.21159
NM_000405.5(GM2A):c.*724G>C rs112641014 0.19839
NM_000405.5(GM2A):c.*2849G>A rs10076053 0.11816
NM_000405.5(GM2A):c.*938G>A rs1130163 0.09731
NM_000405.5(GM2A):c.*144T>C rs9324686 0.08805
NM_000405.5(GM2A):c.*28C>T rs9324685 0.08802
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602 0.07011
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719 0.03595
NM_000405.5(GM2A):c.*2801A>G rs111935946 0.02697
NM_000405.5(GM2A):c.*401G>A rs116809628 0.02370
NM_000405.5(GM2A):c.*2643G>T rs114108271 0.01991
NM_000405.5(GM2A):c.*1695C>A rs115956086 0.01829
NM_000405.4(GM2A):c.-44G>A rs144932594 0.01013
NM_000405.5(GM2A):c.*536G>T rs151210034 0.00992
NM_000405.5(GM2A):c.*824C>A rs186626408 0.00796
NM_000405.5(GM2A):c.*790C>T rs181571430 0.00637
NM_000405.5(GM2A):c.*356C>A rs189626755 0.00491
NM_000405.5(GM2A):c.*2519G>A rs138240164 0.00292
NM_000405.5(GM2A):c.*226C>T rs537947985 0.00255
NM_000405.5(GM2A):c.*2430T>C rs3734041 0.00252
NM_000405.5(GM2A):c.*2767C>T rs117832237 0.00252
NM_000405.5(GM2A):c.*1829C>T rs3806952 0.00250
NM_000405.5(GM2A):c.*864C>T rs191120902 0.00151
NM_000405.5(GM2A):c.33C>T (p.Ile11=) rs143867953 0.00096
NM_000405.5(GM2A):c.*410C>T rs181890739 0.00090
NM_000405.5(GM2A):c.*704T>A rs569818818 0.00049
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740 0.00041
NM_000405.5(GM2A):c.*286C>T rs766120281 0.00039
NM_000405.5(GM2A):c.*426C>T rs370699960 0.00032
NM_000405.5(GM2A):c.*1241T>C rs541818620 0.00030
NM_000405.5(GM2A):c.244G>C (p.Val82Leu) rs139014924 0.00023
NM_000405.5(GM2A):c.506G>A (p.Arg169His) rs104893892 0.00023
NM_000405.5(GM2A):c.575G>T (p.Gly192Val) rs751291017 0.00023
NM_000405.5(GM2A):c.*860C>T rs368971605 0.00022
NM_000405.5(GM2A):c.*241C>T rs377505668 0.00021
NM_000405.5(GM2A):c.254T>G (p.Val85Gly) rs143999954 0.00021
NM_000405.5(GM2A):c.*255C>T rs75026189 0.00016
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994 0.00013
NM_000405.5(GM2A):c.*629C>T rs184763035 0.00012
NM_000405.5(GM2A):c.*1899G>C rs886060274 0.00009
NM_000405.5(GM2A):c.517G>A (p.Val173Ile) rs532003642 0.00008
NM_000405.5(GM2A):c.*984A>G rs866309305 0.00007
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly) rs761692942 0.00007
NM_000405.5(GM2A):c.427-4G>A rs761411485 0.00006
NM_000405.5(GM2A):c.*1246A>G rs760209124 0.00004
NM_000405.5(GM2A):c.*1673A>G rs920253935 0.00004
NM_000405.5(GM2A):c.*2363C>T rs566427956 0.00004
NM_000405.5(GM2A):c.*394G>A rs574467377 0.00004
NM_000405.5(GM2A):c.*91C>A rs774301017 0.00004
NM_000405.5(GM2A):c.138G>A (p.Ala46=) rs147511920 0.00004
NM_000405.5(GM2A):c.177C>T (p.Ile59=) rs745799277 0.00004
NM_000405.5(GM2A):c.82-15C>T rs369106753 0.00004
NM_000405.5(GM2A):c.*1410A>C rs181014044 0.00003
NM_000405.5(GM2A):c.*2479C>T rs886060276 0.00003
NM_000405.5(GM2A):c.244-13T>G rs772862761 0.00003
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys) rs761084552 0.00003
NM_000405.5(GM2A):c.450C>T (p.Ser150=) rs755569739 0.00003
NM_000405.5(GM2A):c.*1708A>G rs1469616524 0.00002
NM_000405.5(GM2A):c.*1927C>G rs1413471325 0.00002
NM_000405.5(GM2A):c.*274A>G rs886060270 0.00002
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg) rs764022955 0.00002
NM_000405.5(GM2A):c.516C>T (p.Ser172=) rs754452771 0.00002
NM_000405.5(GM2A):c.*1068A>G rs576574973 0.00001
NM_000405.5(GM2A):c.*1362G>C rs886060273 0.00001
NM_000405.5(GM2A):c.*188A>T rs886060269 0.00001
NM_000405.5(GM2A):c.*2113G>A rs886060275 0.00001
NM_000405.5(GM2A):c.*2619C>T rs772153529 0.00001
NM_000405.5(GM2A):c.*2695G>A rs770518416 0.00001
NM_000405.5(GM2A):c.*868T>C rs886060272 0.00001
NM_000405.5(GM2A):c.139G>A (p.Val47Met) rs1269101684 0.00001
NM_000405.5(GM2A):c.13A>T (p.Met5Leu) rs557461469 0.00001
NM_000405.5(GM2A):c.195C>T (p.Thr65=) rs768523926 0.00001
NM_000405.5(GM2A):c.24C>T (p.Pro8=) rs752323907 0.00001
NM_000405.5(GM2A):c.39G>A (p.Leu13=) rs374161170 0.00001
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) rs137852797 0.00001
NM_000405.5(GM2A):c.495C>T (p.Thr165=) rs759623712 0.00001
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter) rs775585062 0.00001
NM_000405.5(GM2A):c.522G>C (p.Leu174=) rs778176491 0.00001
NM_000405.5(GM2A):c.82-8G>C rs376211344 0.00001
NC_000005.9:g.(?_150632778)_(150646494_?)dup
NM_000405.5(GM2A):c.*1239dup rs397883774
NM_000405.5(GM2A):c.*1274dup rs397716595
NM_000405.5(GM2A):c.*1312G>T rs541345989
NM_000405.5(GM2A):c.*133C>T rs1753917282
NM_000405.5(GM2A):c.*2009A>G rs1753965351
NM_000405.5(GM2A):c.*2206C>T rs1753968753
NM_000405.5(GM2A):c.*2452A>C rs1037658502
NM_000405.5(GM2A):c.*245G>A rs542291291
NM_000405.5(GM2A):c.*2529G>A rs747946670
NM_000405.5(GM2A):c.*2550C>T rs886060277
NM_000405.5(GM2A):c.*257C>G rs536229935
NM_000405.5(GM2A):c.*2624C>T rs886060278
NM_000405.5(GM2A):c.*2717_*2720del rs35384604
NM_000405.5(GM2A):c.*352C>G rs564679676
NM_000405.5(GM2A):c.*376del rs397712620
NM_000405.5(GM2A):c.*568G>A rs886060271
NM_000405.5(GM2A):c.*722_*723dup rs35982513
NM_000405.5(GM2A):c.*723dup rs35982513
NM_000405.5(GM2A):c.*862C>G rs781320720
NM_000405.5(GM2A):c.*903C>T rs1753937645
NM_000405.5(GM2A):c.-7C>G rs371628812
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln) rs762676667
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) rs104893897
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)
NM_000405.5(GM2A):c.178G>A (p.Val60Ile) rs201829650
NM_000405.5(GM2A):c.178G>C (p.Val60Leu) rs201829650
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)
NM_000405.5(GM2A):c.207G>A (p.Met69Ile) rs2114032524
NM_000405.5(GM2A):c.207G>C (p.Met69Ile)
NM_000405.5(GM2A):c.209del (p.Gly70fs) rs2114032531
NM_000405.5(GM2A):c.243+10G>A
NM_000405.5(GM2A):c.243+9G>A
NM_000405.5(GM2A):c.244-15A>T
NM_000405.5(GM2A):c.244-2A>T rs1057519022
NM_000405.5(GM2A):c.244-6T>C rs2127240577
NM_000405.5(GM2A):c.244-6del
NM_000405.5(GM2A):c.244-6dup
NM_000405.5(GM2A):c.261G>A (p.Glu87=)
NM_000405.5(GM2A):c.262_264del (p.Lys88del) rs1753894328
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe) rs1753894633
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg) rs2127240636
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr) rs1443880021
NM_000405.5(GM2A):c.315C>T (p.Ser105=)
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000405.5(GM2A):c.342G>C (p.Val114=)
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
NM_000405.5(GM2A):c.367del (p.Glu123fs) rs1302210667
NM_000405.5(GM2A):c.36C>T (p.Ala12=)
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys) rs1561620130
NM_000405.5(GM2A):c.37C>T (p.Leu13=) rs1753622145
NM_000405.5(GM2A):c.381G>A (p.Glu127=)
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
NM_000405.5(GM2A):c.410del (p.His137fs) rs2127240813
NM_000405.5(GM2A):c.426+11A>T
NM_000405.5(GM2A):c.427-12G>A
NM_000405.5(GM2A):c.427-13G>A rs1753905990
NM_000405.5(GM2A):c.427-14T>A
NM_000405.5(GM2A):c.427-4G>T
NM_000405.5(GM2A):c.427-6C>T
NM_000405.5(GM2A):c.427-7C>T
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
NM_000405.5(GM2A):c.429A>T (p.Gly143=)
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) rs1057519021
NM_000405.5(GM2A):c.492C>G (p.Thr164=)
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) rs104893892
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)
NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser) rs771081390
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)
NM_000405.5(GM2A):c.539G>A (p.Arg180His) rs368576623
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
NM_000405.5(GM2A):c.558C>T (p.Ile186=)
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
NM_000405.5(GM2A):c.570A>G (p.Leu190=)
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
NM_000405.5(GM2A):c.579A>C (p.Ile193=)
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
NM_000405.5(GM2A):c.57C>G (p.Ala19=)
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
NM_000405.5(GM2A):c.81+4A>G
NM_000405.5(GM2A):c.82-17T>C
NM_000405.5(GM2A):c.82-18C>T
NM_000405.5(GM2A):c.84A>G (p.Pro28=)
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro) rs1582070376
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)

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