ClinVar Miner

List of variants in gene IMPG2 reported as likely pathogenic by Blueprint Genetics

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) rs764109533 0.00003
NM_016247.4(IMPG2):c.667-1G>A rs1334444660 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.826G>T (p.Glu276Ter) rs746003280 0.00001
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.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter) rs1472199114
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2867dup (p.Asn956fs) rs771246451
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.3113G>T (p.Cys1038Phe) rs1706305751
NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter) rs1706843510
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016247.4(IMPG2):c.854dup (p.Gly286fs) rs1706755871
NM_016247.4(IMPG2):c.922del (p.Tyr308fs) rs1706627397

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