ClinVar Miner

List of variants in gene USH1G reported as pathogenic for Usher syndrome type 1

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.163_164+13del
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_173477.5(USH1G):c.387dup (p.Lys130fs) rs2144755152
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.711del (p.Arg238fs) rs2144754031
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173477.5(USH1G):c.85dup (p.Asp29fs)

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