ClinVar Miner

List of variants studied for Usher syndrome type 1C by Myriad Genetics, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)

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