ClinVar Miner

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

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001195794.1(CLRN1):c.-141C>T
NM_001195794.1(CLRN1):c.-186A>G
NM_001195794.1(CLRN1):c.-229A>G
NM_001195794.1(CLRN1):c.-274A>C rs886058092
NM_001195794.1(CLRN1):c.-289G>A rs55842922
NM_001195794.1(CLRN1):c.-82T>C rs778235601
NM_001195794.1(CLRN1):c.-91C>T
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.183G>A (p.Met61Ile) rs140094683
NM_001195794.1(CLRN1):c.185A>G (p.Gln62Arg)
NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_001195794.1(CLRN1):c.20A>T (p.Lys7Ile) rs3796241
NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg) rs201008540
NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs) rs768093614
NM_001195794.1(CLRN1):c.699C>T (p.Asp233=) rs148752352
NM_052995.2(CLRN1):c.*178G>A
NM_052995.2(CLRN1):c.*247C>T rs763746069
NM_052995.2(CLRN1):c.*81C>G rs769315815
NM_052995.2(CLRN1):c.*97T>C
NM_052995.2(CLRN1):c.-103dup rs1553772899
NM_052995.2(CLRN1):c.-16_-3del rs1553772861
NM_052995.2(CLRN1):c.-32del rs1032160668
NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu) rs779258184
NM_052995.2(CLRN1):c.183G>A (p.Leu61=)
NM_052995.2(CLRN1):c.205+1061A>T rs567709615
NM_052995.2(CLRN1):c.205+1102G>T rs1553772414
NM_052995.2(CLRN1):c.206-3C>A
NM_052995.2(CLRN1):c.228_230del (p.Met76del) rs1553770929
NM_052995.2(CLRN1):c.245A>G (p.Glu82Gly) rs369185342
NM_052995.2(CLRN1):c.274A>T (p.Ile92Phe)
NM_052995.2(CLRN1):c.342+138C>G
NM_052995.2(CLRN1):c.342+219A>G rs780643561
NM_052995.2(CLRN1):c.342+222T>C
NM_052995.2(CLRN1):c.342+244G>A rs182501934
NM_052995.2(CLRN1):c.342+378G>A
NM_052995.2(CLRN1):c.342+394AT[5] rs550716419
NM_052995.2(CLRN1):c.342+404A>G rs570356810
NM_052995.2(CLRN1):c.342+406GT[11] rs34027634
NM_052995.2(CLRN1):c.342+406GT[12] rs34027634
NM_052995.2(CLRN1):c.342+406GT[15] rs34027634
NM_052995.2(CLRN1):c.342+406GT[16] rs34027634
NM_052995.2(CLRN1):c.342+427T>C
NM_052995.2(CLRN1):c.342+436G>T rs886058091
NM_052995.2(CLRN1):c.342+554G>A rs778645950
NM_052995.2(CLRN1):c.343-208G>A rs748935256
NM_052995.2(CLRN1):c.343-229G>T
NM_052995.2(CLRN1):c.343-249T>C
NM_052995.2(CLRN1):c.343-25A>T rs200446881
NM_052995.2(CLRN1):c.343-26G>A rs201534956
NM_052995.2(CLRN1):c.343-32T>C
NM_052995.2(CLRN1):c.343-472G>C
NM_052995.2(CLRN1):c.343-527T>C
NM_052995.2(CLRN1):c.3G>A (p.Met1Ile) rs780023517
NM_052995.2(CLRN1):c.63C>T (p.Ile21=) rs1231233910

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