ClinVar Miner

List of variants reported as benign for Usher syndrome type 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_153676.4(USH1C):c.-60T>C rs371444878 0.01736
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279

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