ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome, type 3A

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Total variants: 13
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HGVS dbSNP
NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_052995.2(CLRN1):c.144del (p.Phe48fs) rs1553772595
NM_052995.2(CLRN1):c.205+2dup rs1057516687
NM_052995.2(CLRN1):c.274dup (p.Ile92fs) rs746523071
NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter) rs376155416
NM_052995.2(CLRN1):c.73_77del (p.Val25fs) rs397517932

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