ClinVar Miner

List of variants studied for hematologic disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_182972.3(IRF2BP2):c.1330G>A (p.Ala444Thr) rs766802305 0.00011
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_001322934.2(NFKB2):c.1407C>G (p.Asp469Glu) rs772211653 0.00004
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val) rs141341073 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 0.00001
NC_000007.14:g.80649748_80727446del
NC_000014.9:g.105855132dup rs2092930640
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) rs1935687757
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) rs1927036604
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.7519C>G (p.Arg2507Gly) rs368286307
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001322934.2(NFKB2):c.2657C>A (p.Pro886Gln) rs2135443850
NM_001364905.1(LRBA):c.8256C>A (p.Phe2752Leu) rs773001726
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln) rs2145853075
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_172351.3(CD46):c.857-124T>A rs886045837
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) rs1894614852

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