ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro) rs779469907 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.77-1346A>G rs767606472 0.00003
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000313.4(PROS1):c.1112T>C (p.Ile371Thr) rs1164683109
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1973A>G (p.His658Arg) rs1576170541
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly) rs1576186985
NM_000313.4(PROS1):c.550del (p.Cys184fs) rs1576186962

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