ClinVar Miner

List of variants in gene USH1C reported as benign for Usher syndrome type 1C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2656-260A>G rs7108947 0.95611
NM_153676.4(USH1C):c.-183T>G rs1859819 0.57652
NM_153676.4(USH1C):c.1086-45A>G rs2041031 0.57266
NM_153676.4(USH1C):c.1086-42G>A rs2108332 0.57242
NM_153676.4(USH1C):c.1086-108A>G rs2041032 0.56388
NM_153676.4(USH1C):c.37-45C>G rs2240489 0.56124
NM_153676.4(USH1C):c.760-66T>C rs4757539 0.56102
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.1413+52C>T rs2190453 0.47939
NM_153676.4(USH1C):c.37-61A>G rs878546 0.45653
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.1085+21C>G rs2240488 0.43168
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_153676.4(USH1C):c.36+214C>T rs7125811 0.39120
NM_153676.4(USH1C):c.2656-47C>T rs2072225 0.38117
NM_153676.4(USH1C):c.2547-11T>C rs10832795 0.35821
NM_153676.4(USH1C):c.522-45del rs5789990 0.31188
NM_153676.4(USH1C):c.580-27G>A rs6486378 0.30297
NM_153676.4(USH1C):c.579+61G>A rs72870320 0.23593
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_153676.4(USH1C):c.1414-34G>A rs2237964 0.16591
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_153676.4(USH1C):c.2381-46G>A rs2072233 0.10738
NM_153676.4(USH1C):c.37-47G>T rs2355022 0.09867
NM_153676.4(USH1C):c.2226+197G>A rs12270644 0.09831
NM_153676.4(USH1C):c.521+56A>G rs41282940 0.09720
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.2134-12T>C rs76769358 0.04923
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
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.2184+21T>G rs75810555 0.01371
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.2134-11T>C rs200386499 0.00047
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.2134-22dup rs397848183
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2546+125A>G rs2072229
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.496+33= rs12795083

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