ClinVar Miner

List of variants in gene IMPG2 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) rs764109533 0.00003
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875 0.00002
NM_016247.4(IMPG2):c.667-1G>A rs1334444660 0.00002
NM_016247.4(IMPG2):c.2038del (p.Glu680fs) rs1706448011 0.00001
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer) rs771980888 0.00001
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter) rs267606876 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter) rs1276845142 0.00001
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter) rs759184240 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter) rs932467788 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NC_000003.11:g.(?_100986335)_(100986395_?)del
NC_000003.11:g.(?_101010303)_(101010374_?)del
NC_000003.12:g.(?_101267511)_(101267531_?)del
NM_016247.4(IMPG2):c.1071T>A (p.Tyr357Ter)
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) rs753747821
NM_016247.4(IMPG2):c.1100del (p.Leu367fs)
NM_016247.4(IMPG2):c.1100dup (p.Leu367fs) rs1260931426
NM_016247.4(IMPG2):c.1208C>G (p.Ser403Ter)
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter) rs1706474422
NM_016247.4(IMPG2):c.1276_1277insC (p.Glu426fs) rs1706474271
NM_016247.4(IMPG2):c.1350G>A (p.Trp450Ter) rs760477475
NM_016247.4(IMPG2):c.1483C>T (p.Gln495Ter)
NM_016247.4(IMPG2):c.1543G>T (p.Gly515Ter)
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter) rs1472199114
NM_016247.4(IMPG2):c.1658del (p.Val553fs) rs1706456124
NM_016247.4(IMPG2):c.1735C>T (p.Gln579Ter)
NM_016247.4(IMPG2):c.1802T>A (p.Leu601Ter) rs138793555
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs) rs1553681434
NM_016247.4(IMPG2):c.186_189del (p.Lys62fs) rs2058802159
NM_016247.4(IMPG2):c.189dup (p.Gln64fs) rs2058802149
NM_016247.4(IMPG2):c.2120C>A (p.Ser707Ter)
NM_016247.4(IMPG2):c.216_217del (p.Arg73fs)
NM_016247.4(IMPG2):c.2233del (p.Glu745fs) rs1197126131
NM_016247.4(IMPG2):c.224G>A (p.Trp75Ter) rs1263954282
NM_016247.4(IMPG2):c.2269dup (p.Glu757fs) rs746117535
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2481del (p.Glu828fs)
NM_016247.4(IMPG2):c.255dup (p.Pro86fs) rs2107148760
NM_016247.4(IMPG2):c.2560C>T (p.Gln854Ter)
NM_016247.4(IMPG2):c.263del (p.Gly88fs)
NM_016247.4(IMPG2):c.2739del (p.Glu914fs)
NM_016247.4(IMPG2):c.2755A>T (p.Lys919Ter)
NM_016247.4(IMPG2):c.2797G>T (p.Glu933Ter)
NM_016247.4(IMPG2):c.2839C>T (p.Gln947Ter)
NM_016247.4(IMPG2):c.283G>T (p.Glu95Ter)
NM_016247.4(IMPG2):c.3002dup (p.Tyr1001Ter) rs1706423187
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) rs1706423076
NM_016247.4(IMPG2):c.3093_3097dup (p.Glu1033fs) rs2107208049
NM_016247.4(IMPG2):c.3126C>A (p.Tyr1042Ter)
NM_016247.4(IMPG2):c.3147del (p.Cys1050fs)
NM_016247.4(IMPG2):c.3159_3160del (p.Leu1053_Cys1054insTer) rs2107207948
NM_016247.4(IMPG2):c.3169C>T (p.Gln1057Ter) rs2107207943
NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs) rs779626652
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.3448del (p.Leu1150fs) rs2107204142
NM_016247.4(IMPG2):c.3490G>T (p.Glu1164Ter)
NM_016247.4(IMPG2):c.3535C>T (p.Gln1179Ter)
NM_016247.4(IMPG2):c.3601_3604del (p.Gln1201fs)
NM_016247.4(IMPG2):c.44del (p.Ile14_Leu15insTer)
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_016247.4(IMPG2):c.814G>T (p.Glu272Ter)
NM_016247.4(IMPG2):c.946del (p.Glu316fs) rs1706627038

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