ClinVar Miner

List of variants reported as likely pathogenic by Research and Development, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000155.4(GALT):c.959C>T (p.Ala320Val) rs367543272
NM_000495.5(COL4A5):c.1033-6A>G rs869025330
NM_000495.5(COL4A5):c.4896T>G (p.Cys1632Trp) rs1569509336
NM_000495.5(COL4A5):c.81+4A>C rs1569469484
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) rs1559600573
NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) rs1336386457

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