ClinVar Miner

List of variants reported as uncertain significance for GM2 gangliosidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.*724G>C rs112641014 0.19839
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_000405.5(GM2A):c.*356C>A rs189626755 0.00491
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000405.5(GM2A):c.*2519G>A rs138240164 0.00292
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000405.5(GM2A):c.*410C>T rs181890739 0.00090
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000405.5(GM2A):c.*704T>A rs569818818 0.00049
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_000405.5(GM2A):c.*286C>T rs766120281 0.00039
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000405.5(GM2A):c.*426C>T rs370699960 0.00032
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000405.5(GM2A):c.*1241T>C rs541818620 0.00030
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
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_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000405.5(GM2A):c.*1899G>C rs886060274 0.00009
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000521.3(HEXB):c.-52C>A rs886060748 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_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
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_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 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_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 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.13A>T (p.Met5Leu) rs557461469 0.00001
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000521.4(HEXB):c.*105T>C rs777009900 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
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.37C>T (p.Leu13=) rs1753622145
NM_000405.5(GM2A):c.539G>A (p.Arg180His) rs368576623
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750

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