ClinVar Miner

List of variants in gene CLRN1 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) rs1553776036
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_174878.3(CLRN1):c.254-2A>G
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) rs1559982739
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.433+1G>A rs201205811
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.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.528T>G (p.Tyr176Ter) rs121908140
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) rs1576651623

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