ClinVar Miner

List of variants reported as uncertain significance for Tay-Sachs disease AB variant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.*724G>C rs112641014 0.19839
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.*410C>T rs181890739 0.00090
NM_000405.5(GM2A):c.*704T>A rs569818818 0.00049
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.*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.*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.*1410A>C rs181014044 0.00003
NM_000405.5(GM2A):c.*2479C>T rs886060276 0.00003
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys) rs761084552 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.*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
NC_000005.9:g.(?_150632778)_(150646494_?)dup
NC_000005.9:g.(?_150632778)_(150727021_?)dup
NM_000405.4(GM2A):c.-104T>C rs1753617546
NM_000405.4(GM2A):c.-83C>G rs1753618021
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.*352C>G rs564679676
NM_000405.5(GM2A):c.*568G>A rs886060271
NM_000405.5(GM2A):c.*722_*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.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.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.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.379G>A (p.Glu127Lys) rs1561620130
NM_000405.5(GM2A):c.37C>T (p.Leu13=) rs1753622145
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
NM_000405.5(GM2A):c.427-13G>A rs1753905990
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
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.505C>A (p.Arg169Ser)
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
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.559G>A (p.Ala187Thr)
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
NM_000405.5(GM2A):c.81+4A>G
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro) rs1582070376
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)

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