ClinVar Miner

List of variants in gene CLRN1 studied for Retinal dystrophy

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
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.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) rs779258184 0.00002
NM_174878.3(CLRN1):c.270C>G (p.Leu90=) rs143232961 0.00001
NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys) rs746128095 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.154C>T (p.Gln52Ter) rs1715594024
NM_174878.3(CLRN1):c.165del (p.Asp55fs) rs1235835151
NM_174878.3(CLRN1):c.253+2T>C
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.440G>A (p.Cys147Tyr) rs1712936705
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile)
NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu) rs374390376
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) rs878853379

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