ClinVar Miner

List of variants reported as pathogenic for Usher syndrome, type 1G

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Total variants: 10
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NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
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.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
USH1G, 15-BP DEL, NT163

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