ClinVar Miner

List of variants in gene CLRN1 reported as uncertain significance for Usher syndrome type 3

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.*298T>C rs769104257 0.00900
NM_001195794.1(CLRN1):c.-289G>A rs55842922 0.00630
NM_001195794.1(CLRN1):c.-91C>T rs73155722 0.00135
NM_174878.3(CLRN1):c.*93T>C rs567265508 0.00128
NM_174878.3(CLRN1):c.*275A>G rs570356810 0.00087
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
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.*856G>A rs748935256 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.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.322C>T (p.Leu108Phe) rs144691725 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.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) rs764099313 0.00003
NM_001195794.1(CLRN1):c.-274A>C rs886058092 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.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) rs904836940 0.00001
NM_174878.3(CLRN1):c.433+10A>G rs752878216 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.529G>A (p.Val177Ile) rs753739519 0.00001
NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg) rs374390376 0.00001
NM_001195794.1(CLRN1):c.-186A>G rs1715627039
NM_001195794.1(CLRN1):c.-229A>G rs575451901
NM_174878.3(CLRN1):c.*1262G>A rs1477382233
NM_174878.3(CLRN1):c.*537T>C rs1712862411
NM_174878.3(CLRN1):c.*592G>C rs750506543
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) rs903439082
NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys) rs983316791
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.268C>G (p.Leu90Val) rs1325008535
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg) 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.434-3C>A rs1712938572
NM_174878.3(CLRN1):c.43G>A (p.Val15Met) rs1559996357
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg) rs764138183

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