ClinVar Miner

List of variants reported as likely pathogenic by Genetic Diagnostic Laboratory,University of Szeged

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Total variants: 4
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HGVS dbSNP
NM_000380.3(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) rs1564045331
NM_000495.5(COL4A5):c.1033-6A>G rs869025330
NM_001083602.2(PTCH1):c.1539_1547del (p.Val514_Val516del)
NM_001083602.2(PTCH1):c.2636delinsAGATGTTGTGGACCC (p.Arg879fs) rs1554691658

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