ClinVar Miner

List of variants studied for blood coagulation disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg) rs201804540 0.00091
NM_000361.3(THBD):c.683C>T (p.Pro228Leu) rs375011249 0.00060
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_000361.3(THBD):c.1361T>C (p.Val454Ala) rs147377392 0.00029
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750 0.00027
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_001261826.3(AP3D1):c.2601+6G>T rs1265838305 0.00003
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) rs376049280 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) rs770870596
NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu) rs752786667
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_172351.3(CD46):c.944-1G>C

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