ClinVar Miner

List of variants studied for Thrombophilia due to protein S deficiency, autosomal dominant

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ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.*520A>C rs9681204 0.79141
NM_000313.4(PROS1):c.2001A>G (p.Pro667=) rs6123 0.33781
NM_000313.4(PROS1):c.*197C>T rs182088150 0.01026
NM_000313.4(PROS1):c.1032C>T (p.Ile344=) rs78449232 0.00981
NM_000313.4(PROS1):c.234+72T>C rs115491294 0.00923
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000313.4(PROS1):c.-62T>G rs556711298 0.00328
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.*992T>G rs538711279 0.00263
NM_000313.4(PROS1):c.*454G>A rs539871594 0.00256
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.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000313.4(PROS1):c.*469A>C rs147496684 0.00164
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys) rs199469491 0.00155
NM_000313.4(PROS1):c.*380A>T rs138546241 0.00133
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
NM_000313.4(PROS1):c.1494T>C (p.Asn498=) rs76877671 0.00033
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.1747A>C (p.Asn583His) rs139479630 0.00014
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.1331C>T (p.Pro444Leu) rs369244777 0.00009
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.1043C>T (p.Ala348Val) rs769125007 0.00007
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.947G>A (p.Arg316His) rs747259055 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.1707C>T (p.Ser569=) rs566166669 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.1446C>T (p.Gly482=) rs535201753 0.00003
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_000313.4(PROS1):c.*301A>G rs569117154 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) rs745470312 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 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.1252A>T (p.Asn418Tyr) rs753603433 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.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.1752G>A (p.Leu584=) rs772250170 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 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.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000313.4(PROS1):c.601+12A>G rs753550053 0.00001
NM_000313.4(PROS1):c.946C>T (p.Arg316Cys) rs373983977 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 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.1055T>G (p.Ile352Ser) rs1708455723
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) rs2107150027
NM_000313.4(PROS1):c.111T>C (p.Val37=) rs886058928
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1324-9A>G rs2107137679
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) rs2107137626
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
NM_000313.4(PROS1):c.1492+6T>G
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) rs121918472
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg) rs2107202922
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser) rs2107125044
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val) rs2107124949
NM_000313.4(PROS1):c.1870+1G>C rs780859898
NM_000313.4(PROS1):c.1871-14T>G rs754929347
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) rs1708153590
NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser) rs2107120174
NM_000313.4(PROS1):c.1907A>G (p.Tyr636Cys) rs368173480
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) rs886058926
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr) rs267606981
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.263G>A (p.Cys88Tyr)
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.346+1G>T
NM_000313.4(PROS1):c.346+2T>A
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg) rs2107170811
NM_000313.4(PROS1):c.676T>A (p.Cys226Ser) rs370855515
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr) rs558211174
NM_000313.4(PROS1):c.728-12T>C rs775011352
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) rs2107158284
NM_000313.4(PROS1):c.76+2_76+3del rs2107279030
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) rs1576182848
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser) rs121918473
NM_000313.4(PROS1):c.805G>A (p.Gly269Arg) rs886058927
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
NM_000313.4(PROS1):c.905T>G (p.Leu302Trp)
NM_000313.4(PROS1):c.965+9C>T rs1708504228
PROS1, IVS10DS, G-A, +5

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