ClinVar Miner

List of variants reported as likely pathogenic for Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant

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Total variants: 14
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NM_000312.3(PROC):c.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.3(PROC):c.1242G>A (p.Trp414Ter) rs1558718572
NM_000312.3(PROC):c.125G>A (p.Arg42His) rs369504169
NM_000312.3(PROC):c.199G>A (p.Glu67Lys) rs1448630830
NM_000312.3(PROC):c.238-1G>A rs1553423955
NM_000312.3(PROC):c.352T>C (p.Phe118Leu) rs1553424043
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000312.3(PROC):c.811C>T (p.Arg271Trp) rs767112991
NM_000312.3(PROC):c.935C>T (p.Ser312Leu) rs121918160
NM_000312.4(PROC):c.1099G>A (p.Val367Met)
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)
NM_000312.4(PROC):c.124C>T (p.Arg42Cys)
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)
NM_000312.4(PROC):c.862C>T (p.His288Tyr)

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