ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) rs1178415419 0.00002
NM_000504.4(F10):c.80G>A (p.Arg27His) rs1263735827 0.00001
NM_000508.5(FGA):c.2527T>C (p.Trp843Arg) rs1280924091 0.00001
NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu) rs1048674696 0.00001
NM_021871.4(FGA):c.1463G>A (p.Gly488Asp) rs1382669489 0.00001
NM_021871.4(FGA):c.1470C>G (p.Asp490Glu) rs1335171406 0.00001
NM_021871.4(FGA):c.1915A>G (p.Lys639Glu) rs1424019951 0.00001
NM_000128.4(F11):c.230T>C (p.Val77Ala) rs1433941674
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) rs1761279176
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) rs1458190494
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) rs2113184204
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) rs1483793682
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) rs1414492888
NM_000130.5(F5):c.2232G>C (p.Leu744Phe) rs2101820303
NM_000130.5(F5):c.2234A>G (p.Asn745Ser) rs2101820299
NM_000130.5(F5):c.2837G>T (p.Arg946Ile) rs2101819634
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro) rs1241060030
NM_000130.5(F5):c.4297C>T (p.Leu1433Phe) rs2101817787
NM_000130.5(F5):c.5022del (p.Leu1675fs) rs2101811710
NM_000130.5(F5):c.5594T>G (p.Leu1865Arg) rs1659497927
NM_000130.5(F5):c.6010T>C (p.Trp2004Arg) rs2101806568
NM_000132.4(F8):c.1724A>C (p.Lys575Thr) rs2073367952
NM_000132.4(F8):c.1969T>C (p.Tyr657His) rs2124082280
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.3144G>T (p.Trp1048Cys) rs1060499784
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.5267A>T (p.Glu1756Val) rs2124000688
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5863C>G (p.Gln1955Glu) rs2123996340
NM_000132.4(F8):c.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6709G>T (p.Ala2237Ser) rs2148567205
NM_000132.4(F8):c.6834G>T (p.Glu2278Asp) rs2072682134
NM_000133.4(F9):c.704C>A (p.Pro235Gln) rs2148362579
NM_000504.4(F10):c.107C>A (p.Ala36Glu) rs2036405879
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
NM_000504.4(F10):c.1387G>C (p.Asp463His) rs1476602298
NM_000504.4(F10):c.152G>A (p.Gly51Glu) rs751782758
NM_000504.4(F10):c.28C>T (p.Leu10Phe) rs2142244681
NM_000504.4(F10):c.829T>A (p.Cys277Ser) rs2138554252
NM_000504.4(F10):c.84G>T (p.Arg28Ser) rs1212018525
NM_000504.4(F10):c.89A>G (p.Gln30Arg) rs2142252077
NM_000506.5(F2):c.1131-5C>T rs1255363601
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.607A>G (p.Ser203Gly) rs2064868698
NM_000506.5(F2):c.954T>G (p.Ser318Arg) rs2134532792
NM_000508.5(FGA):c.2021T>C (p.Leu674Ser) rs2110806407
NM_000508.5(FGA):c.2024T>C (p.Ile675Thr) rs2110806390
NM_000508.5(FGA):c.2024T>G (p.Ile675Ser) rs2110806390
NM_000508.5(FGA):c.2128G>A (p.Gly710Ser) rs2110806103
NM_000508.5(FGA):c.2372A>T (p.Asp791Val) rs1479874554
NM_000552.5(VWF):c.1916G>A (p.Arg639His) rs2136454101
NM_000552.5(VWF):c.2174A>G (p.His725Arg) rs2136449433
NM_000552.5(VWF):c.2182A>G (p.Met728Val) rs1944527524
NM_000552.5(VWF):c.2981G>T (p.Gly994Val) rs1591867991
NM_000552.5(VWF):c.3286G>C (p.Asp1096His) rs748673885
NM_000552.5(VWF):c.3688G>A (p.Val1230Ile) rs2136414039
NM_000552.5(VWF):c.3806A>T (p.Asp1269Val) rs2136413788
NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu) rs2136413783
NM_000552.5(VWF):c.4163A>G (p.Gln1388Arg) rs1944101095
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn) rs1800383
NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys) rs1944088119
NM_000552.5(VWF):c.5029A>G (p.Ile1677Val) rs1242618824
NM_000552.5(VWF):c.5694G>C (p.Gln1898His) rs1218412177
NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile) rs2136403566
NM_000552.5(VWF):c.575C>T (p.Ala192Val) rs2136500405
NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys) rs1943786371
NM_000552.5(VWF):c.6136A>G (p.Ile2046Val) rs2136386032
NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly) rs1397931528
NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser) rs2136385448
NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg) rs2136385431
NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe) rs181987927
NM_000552.5(VWF):c.7114C>T (p.Pro2372Ser) rs2136371404
NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala) rs2136371219
NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr) rs1258347142
NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg) rs1443181806
NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr) rs2136336158
NM_000552.5(VWF):c.960G>A (p.Met320Ile) rs2136472049
NM_001994.3(F13B):c.1693G>A (p.Ala565Thr) rs2125062488
NM_001994.3(F13B):c.431C>T (p.Pro144Leu) rs1558311941
NM_001994.3(F13B):c.521A>T (p.Asp174Val) rs2125072085
NM_001994.3(F13B):c.625A>G (p.Thr209Ala) rs201594137
NM_001994.3(F13B):c.779G>T (p.Trp260Leu) rs2125071222
NM_001994.3(F13B):c.881A>T (p.His294Leu) rs2125068412
NM_019616.4(F7):c.1319G>T (p.Arg440Leu) rs372452455
NM_019616.4(F7):c.391A>C (p.Asn131His) rs2142224544
NM_019616.4(F7):c.408T>G (p.Cys136Trp) rs2142224651
NM_021870.3(FGG):c.1202G>A (p.Arg401Gln) rs2110838894
NM_021870.3(FGG):c.606G>C (p.Gln202His) rs2110846559
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) rs2110844685
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) rs2110844651
NM_021871.4(FGA):c.1930C>G (p.Pro644Ala) rs1730682953
NM_021871.4(FGA):c.829T>C (p.Tyr277His) rs1473392017

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