ClinVar Miner

List of variants in gene CLRN1 studied for Usher syndrome type 3

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.*315C>T rs1456138 0.76689
NM_174878.3(CLRN1):c.*372C>T rs4680058 0.76596
NM_001195794.1(CLRN1):c.-71A>G rs3796240 0.48434
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_174878.3(CLRN1):c.*884A>C rs12635299 0.08952
NM_174878.3(CLRN1):c.*964C>T rs16863066 0.03941
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_174878.3(CLRN1):c.*298T>C rs769104257 0.00900
NM_001195794.1(CLRN1):c.-289G>A rs55842922 0.00630
NM_174878.3(CLRN1):c.*1027T>G rs147434424 0.00493
NM_174878.3(CLRN1):c.*1191T>C rs113817098 0.00396
NM_001195794.1(CLRN1):c.-91C>T rs73155722 0.00135
NM_174878.3(CLRN1):c.*93T>C rs567265508 0.00128
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_174878.3(CLRN1):c.*275A>G rs570356810 0.00087
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00070
NM_174878.3(CLRN1):c.*115G>A rs182501934 0.00041
NM_174878.3(CLRN1):c.*835G>T rs558161150 0.00029
NM_174878.3(CLRN1):c.*425G>A rs778645950 0.00024
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_174878.3(CLRN1):c.*1038G>A rs201534956 0.00022
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_174878.3(CLRN1):c.*856G>A rs748935256 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) rs140094683 0.00012
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser) rs368175674 0.00010
NM_174878.3(CLRN1):c.*90A>G rs780643561 0.00009
NM_174878.3(CLRN1):c.*9C>G rs201624666 0.00009
NM_174878.3(CLRN1):c.*1039A>T rs200446881 0.00007
NM_174878.3(CLRN1):c.*1181T>C rs775798558 0.00007
NM_174878.3(CLRN1):c.*1330T>C rs374292166 0.00007
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) rs764632225 0.00007
NM_174878.3(CLRN1):c.*1331C>T rs763746069 0.00006
NM_174878.3(CLRN1):c.*249G>A rs528690106 0.00006
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) rs3796241 0.00005
NM_174878.3(CLRN1):c.*1032T>C rs564545961 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe) rs201625237 0.00004
NM_174878.3(CLRN1):c.*1165C>G rs769315815 0.00003
NM_174878.3(CLRN1):c.*307G>T rs886058091 0.00003
NM_174878.3(CLRN1):c.254-2132C>T rs758741442 0.00003
NM_001195794.1(CLRN1):c.-274A>C rs886058092 0.00002
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00002
NM_174878.3(CLRN1):c.254-2115del rs1032160668 0.00002
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) rs779258184 0.00002
NM_174878.3(CLRN1):c.66C>A (p.Leu22=) rs375543586 0.00002
NM_001195794.1(CLRN1):c.-141C>T rs769902137 0.00001
NM_001195794.1(CLRN1):c.-82T>C rs778235601 0.00001
NM_174878.3(CLRN1):c.*815T>C rs1397342628 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.254-2057T>C rs778574679 0.00001
NM_174878.3(CLRN1):c.254-2082T>G rs963890618 0.00001
NM_174878.3(CLRN1):c.254-2111del rs1211060908 0.00001
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.433+1G>A rs201205811 0.00001
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly) rs369185342 0.00001
NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) rs780412161 0.00001
NM_174878.3(CLRN1):c.540G>A (p.Thr180=) rs774615126 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_001195794.1(CLRN1):c.-186A>G rs1715627039
NM_001195794.1(CLRN1):c.-229A>G rs575451901
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.*1262G>A rs1477382233
NM_174878.3(CLRN1):c.*277G>A rs200685524
NM_174878.3(CLRN1):c.*537T>C rs1712862411
NM_174878.3(CLRN1):c.*592G>C rs750506543
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) rs903439082
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) rs1553776036
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_174878.3(CLRN1):c.254-2081G>A rs780023517
NM_174878.3(CLRN1):c.254-2099_254-2086del rs1553772861
NM_174878.3(CLRN1):c.254-2189dup rs1553772899
NM_174878.3(CLRN1):c.254-2A>G rs1713861377
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) rs1559982739
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) rs1576631624
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys) rs121908141
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg) rs1553776112
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.411G>A (p.Leu137=) rs1713844994
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.434-3C>A rs1712938572
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_174878.3(CLRN1):c.43G>A (p.Val15Met) rs1559996357
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) rs121908142
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) rs1085307049
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg) rs764138183
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) rs1576651623

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