ClinVar Miner

List of variants in gene PROS1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) rs761574063 0.00003
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.3(PROS1):c.-168C>T rs199469484
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) rs1437372036
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1284del (p.Gly429fs) rs1576176794
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter) rs267599946
NM_000313.4(PROS1):c.1514del (p.Gly505fs) rs1576173175
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) rs199469500
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) rs1395378093
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) rs1576180280
Single allele

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