ClinVar Miner

List of variants reported as benign for blood coagulation disease by Genome Diagnostics Laboratory, The Hospital for Sick Children

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_030787.4(CFHR5):c.-20T>C rs9427662 0.19169
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_004621.6(TRPC6):c.-254C>G rs3824934 0.08690
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000204.5(CFI):c.884-7T>C rs140555685 0.01504
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_000361.3(THBD):c.1092G>A (p.Glu364=) rs73901577 0.00611
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_172351.3(CD46):c.38C>T (p.Ser13Phe) rs138843816 0.00262
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala) rs140313679 0.00156
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000204.5(CFI):c.482+6C>T rs79375065
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_005666.4(CFHR2):c.213G>A (p.Thr71=)
NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)
NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)
NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)
NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)

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