ClinVar Miner

List of variants reported as uncertain significance for protein S deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr) rs189883848 0.00312
NM_000313.4(PROS1):c.*783C>T rs137965257 0.00279
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) rs73846070 0.00238
NM_000313.4(PROS1):c.*686G>A rs550909963 0.00211
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala) rs142846443 0.00043
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NC_000003.12:g.93973939G>C rs149028936 0.00031
NM_000313.4(PROS1):c.-135C>T rs750502941 0.00031
NM_000313.4(PROS1):c.-261C>T rs886058930 0.00029
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000313.4(PROS1):c.-48C>A rs775507528 0.00028
NM_000313.4(PROS1):c.*119T>C rs886058924 0.00026
NM_000313.4(PROS1):c.*1103A>G rs779418455 0.00024
NM_000313.4(PROS1):c.*155T>A rs534064879 0.00024
NM_000313.4(PROS1):c.*370G>A rs144135580 0.00017
NM_000313.4(PROS1):c.*1046T>C rs546710591 0.00013
NM_000313.4(PROS1):c.-43G>A rs370938580 0.00013
NM_000313.4(PROS1):c.585T>C (p.Asn195=) rs372109285 0.00013
NM_000313.4(PROS1):c.1377A>G (p.Gly459=) rs371312357 0.00012
NM_000313.4(PROS1):c.684C>T (p.Cys228=) rs377173471 0.00009
NM_000313.4(PROS1):c.*1139C>A rs886058922 0.00008
NM_000313.4(PROS1):c.503A>G (p.Asn168Ser) rs144430063 0.00008
NM_000313.4(PROS1):c.563A>G (p.Asn188Ser) rs146070827 0.00007
NM_000313.3(PROS1):c.-187G>T rs1195211433 0.00006
NM_000313.4(PROS1):c.1323+8T>G rs778473220 0.00006
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) rs202190731 0.00006
NM_000313.4(PROS1):c.*550G>A rs925792694 0.00005
NM_000313.4(PROS1):c.*86T>C rs886058925 0.00005
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) rs755684845 0.00005
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000313.4(PROS1):c.*301A>G rs569117154 0.00002
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) rs745470312 0.00002
NM_000313.3(PROS1):c.-167G>T rs983179502 0.00001
NM_000313.4(PROS1):c.*385A>G rs1576170245 0.00001
NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg) rs1350149739 0.00001
NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys) rs1263937066 0.00001
NM_000313.4(PROS1):c.1752G>A (p.Leu584=) rs772250170 0.00001
NM_000313.4(PROS1):c.311C>A (p.Thr104Asn) rs753950548 0.00001
NM_000313.4(PROS1):c.346+15C>T rs1265949362 0.00001
NM_000313.4(PROS1):c.601+12A>G rs753550053 0.00001
NM_000313.3(PROS1):c.*1195C>G rs1708129293
NM_000313.4(PROS1):c.*1014T>C rs1708133064
NM_000313.4(PROS1):c.*1082A>G rs1708131875
NM_000313.4(PROS1):c.*1167_*1170del rs886058921
NM_000313.4(PROS1):c.*1186C>T rs1708129465
NM_000313.4(PROS1):c.*221del rs776969264
NM_000313.4(PROS1):c.*422G>T rs770100925
NM_000313.4(PROS1):c.*714T>C rs886058923
NM_000313.4(PROS1):c.*737G>C rs538937681
NM_000313.4(PROS1):c.*887C>A rs1708135152
NM_000313.4(PROS1):c.*972C>T rs538178021
NM_000313.4(PROS1):c.-116C>T rs886058929
NM_000313.4(PROS1):c.-60G>C rs368555701
NM_000313.4(PROS1):c.111T>C (p.Val37=) rs886058928
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) rs1708153590
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) rs886058926
NM_000313.4(PROS1):c.228G>A (p.Pro76=) rs6121
NM_000313.4(PROS1):c.234G>A (p.Thr78=) rs145399944
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr) rs558211174
NM_000313.4(PROS1):c.728-12T>C rs775011352
NM_000313.4(PROS1):c.805G>A (p.Gly269Arg) rs886058927
NM_000313.4(PROS1):c.965+9C>T rs1708504228

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