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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	rs121908140	0.00089
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	rs111033258	0.00016
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	rs374963432	0.00015
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	rs121908143	0.00004
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	rs111033267	0.00001
NM_174878.3(CLRN1):c.433+1G>A	rs201205811	0.00001
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	rs786204428
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs)	rs1553776036
NM_174878.3(CLRN1):c.254-2A>G	rs1713861377
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.449T>C (p.Leu150Pro)	rs121908142
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet)	rs1085307049
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	rs376155416
NM_174878.3(CLRN1):c.65T>A (p.Leu22His)	rs1576651623

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