ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_052995.2(CLRN1):c.205+2dup rs1057516687
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416

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