ClinVar Miner

List of variants in gene IMPG2 reported as likely pathogenic

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
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.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter) rs770399625 0.00001
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer) rs771980888 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.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_016247.4(IMPG2):c.826G>T (p.Glu276Ter) rs746003280 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NC_000003.11:g.(?_100958882)_(100962584_?)del
NC_000003.11:g.(?_100960886)_(100962721_?)del
NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys) rs786205565
NM_016247.4(IMPG2):c.1153+1G>A rs2107234582
NM_016247.4(IMPG2):c.1153+1G>C rs2107234582
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) rs1553687058
NM_016247.4(IMPG2):c.1239+2T>A rs1706568274
NM_016247.4(IMPG2):c.1240-1G>A
NM_016247.4(IMPG2):c.1240-1G>C rs2107222436
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter) rs1706474422
NM_016247.4(IMPG2):c.1328_1335del (p.Ser443fs) rs1706473340
NM_016247.4(IMPG2):c.1565C>G (p.Ser522Ter) rs1409688898
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.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) rs1553681348
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470
NM_016247.4(IMPG2):c.2867dup (p.Asn956fs) rs771246451
NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly) rs1706425401
NM_016247.4(IMPG2):c.2928del (p.Asn976fs) rs770339774
NM_016247.4(IMPG2):c.2973C>A (p.Tyr991Ter) rs1706423758
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) rs1706423076
NM_016247.4(IMPG2):c.3008_3009del (p.Leu1003fs) rs1706422873
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe) rs1706305751
NM_016247.4(IMPG2):c.3233+1G>A rs2107207834
NM_016247.4(IMPG2):c.324dup (p.Lys109Ter)
NM_016247.4(IMPG2):c.334+2T>C
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.3603_3604del (p.Gln1201fs)
NM_016247.4(IMPG2):c.3633+1G>T rs886057685
NM_016247.4(IMPG2):c.3713+5G>A rs1706250496
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro) rs766305807
NM_016247.4(IMPG2):c.478G>T (p.Glu160Ter)
NM_016247.4(IMPG2):c.501+1G>A rs1707165087
NM_016247.4(IMPG2):c.502-2A>G rs2107126517
NM_016247.4(IMPG2):c.533+1G>A
NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter) rs1706843510
NM_016247.4(IMPG2):c.583+1G>C rs1360618530
NM_016247.4(IMPG2):c.666+2T>G
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016247.4(IMPG2):c.828+1G>A
NM_016247.4(IMPG2):c.829-1_840del
NM_016247.4(IMPG2):c.829-2A>T
NM_016247.4(IMPG2):c.854dup (p.Gly286fs) rs1706755871
NM_016247.4(IMPG2):c.888-1G>T rs1706733354
NM_016247.4(IMPG2):c.888-2A>G
NM_016247.4(IMPG2):c.89_92del (p.Gln30fs)
NM_016247.4(IMPG2):c.908+1G>A rs1253611243
NM_016247.4(IMPG2):c.922del (p.Tyr308fs) rs1706627397

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