ClinVar Miner

List of variants in gene CLRN1 studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00070
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
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.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) rs764632225 0.00007
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.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00002
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) rs779258184 0.00002
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 0.00001
NM_174878.3(CLRN1):c.270C>G (p.Leu90=) rs143232961 0.00001
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) rs904836940 0.00001
NM_174878.3(CLRN1):c.433+1G>A rs201205811 0.00001
NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys) rs746128095 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.100A>G (p.Ile34Val)
NM_174878.3(CLRN1):c.109dup (p.Thr37fs)
NM_174878.3(CLRN1):c.121_136dup (p.Leu46fs) rs767882032
NM_174878.3(CLRN1):c.129del (p.Ala44fs)
NM_174878.3(CLRN1):c.138del (p.Val47fs)
NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)
NM_174878.3(CLRN1):c.150_151del (p.Gly51fs)
NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter) rs1715594024
NM_174878.3(CLRN1):c.165del (p.Asp55fs) rs1235835151
NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg)
NM_174878.3(CLRN1):c.190_200dup (p.His67fs)
NM_174878.3(CLRN1):c.195_201dup (p.Gly68fs)
NM_174878.3(CLRN1):c.209dup (p.Val71fs)
NM_174878.3(CLRN1):c.253+2T>C
NM_174878.3(CLRN1):c.253+6T>C
NM_174878.3(CLRN1):c.254-2A>G rs1713861377
NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter)
NM_174878.3(CLRN1):c.31dup (p.Cys11fs) rs752910161
NM_174878.3(CLRN1):c.350C>T (p.Ala117Val)
NM_174878.3(CLRN1):c.433+1072G>T
NM_174878.3(CLRN1):c.433+1083A>G
NM_174878.3(CLRN1):c.433+1086A>G
NM_174878.3(CLRN1):c.433+1G>T
NM_174878.3(CLRN1):c.434-2A>T rs1576623563
NM_174878.3(CLRN1):c.440G>A (p.Cys147Tyr) rs1712936705
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) rs121908142
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) rs1085307049
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) rs775098953
NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter)
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter) rs745585873
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)
NM_174878.3(CLRN1):c.55del (p.Ala19fs)
NM_174878.3(CLRN1):c.578del (p.Phe193fs) rs1231668679
NM_174878.3(CLRN1):c.591del (p.Phe197fs)
NM_174878.3(CLRN1):c.591dup (p.Val198fs)
NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile)
NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu) rs374390376
NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter)
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) rs878853379

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.