ClinVar Miner

List of variants studied 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: 81
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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_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_153676.4(USH1C):c.*405C>G rs11827649 0.00654
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_153676.4(USH1C):c.*42C>T rs16934270 0.00520
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.-71T>G rs571065113 0.00109
NM_153676.4(USH1C):c.*241C>G rs551263680 0.00091
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153676.4(USH1C):c.*117C>G rs534567723 0.00017
NM_153676.4(USH1C):c.*427T>C rs1216254308 0.00016
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976 0.00014
NM_153676.4(USH1C):c.*110C>G rs75815445 0.00011
NM_153676.4(USH1C):c.105-4A>G rs201374986 0.00008
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.*376A>C rs886048057 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.759+10G>T rs368528034 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg) rs199729381 0.00005
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611 0.00004
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974 0.00004
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370 0.00003
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989 0.00003
NM_153676.4(USH1C):c.1211-1106G>A rs201661386 0.00002
NM_153676.4(USH1C):c.2253G>A (p.Lys751=) rs751998841 0.00002
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365 0.00002
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly) rs200322793 0.00002
NM_153676.4(USH1C):c.*131G>C rs550402400 0.00001
NM_153676.4(USH1C):c.*140C>T rs886048058 0.00001
NM_153676.4(USH1C):c.-109A>T rs556793498 0.00001
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile) rs746789590 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628 0.00001
NM_153676.4(USH1C):c.2280+15G>A rs886048059 0.00001
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2490+6A>C rs1456998238 0.00001
NM_153676.4(USH1C):c.2541T>C (p.Asp847=) rs1849262183 0.00001
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674 0.00001
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601 0.00001
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791 0.00001
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622 0.00001
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln) rs763948115 0.00001
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) rs143923730
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.1085+7A>G rs1025205332
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu) rs1850975781
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp) rs1849309216
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060

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