ClinVar Miner

List of variants in gene P4HB studied for Cole-Carpenter syndrome

Included ClinVar conditions (3):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000918.4(P4HB):c.430G>A (p.Ala144Thr) rs138621837 0.00009
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val) rs2038728463
NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)
NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys) rs786204843
NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)
NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp) rs2038725295
NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)
NM_000918.4(P4HB):c.236dup (p.Leu79fs) rs2143371167
NM_000918.4(P4HB):c.718T>C (p.Phe240Leu) rs1343072696

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