ClinVar Miner

List of variants in gene USH1C reported as benign by Invitae

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Gene type:
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Total variants: 54
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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.1085+21C>G rs2240488 0.43168
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
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.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.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409 0.01688
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_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456 0.01319
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.387+17C>T rs78718533 0.00969
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309 0.00442
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.759+20C>T rs200769484 0.00315
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.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.2491-16C>T rs200919289 0.00159
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_153676.4(USH1C):c.2184+10T>C rs200889109 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736 0.00074
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575 0.00006
NM_153676.4(USH1C):c.1236T>C (p.Asp412=) rs199704356 0.00004
NM_153676.4(USH1C):c.2227-13T>C rs566698194 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2280+18dup rs569102513
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.497-19dup rs1241075457
NM_153676.4(USH1C):c.877-19del rs771559169

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