ClinVar Miner

List of variants studied for hematologic disorder by Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) rs1052692 0.08952
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) rs2074888 0.02845
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) rs537417919 0.00061
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NC_000016.10:g.89839795C>G rs2041486621 0.00001
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His) rs778920556 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_000057.4(BLM):c.3559-3A>G
NM_000059.4(BRCA2):c.486del (p.Ser163fs) rs587780653
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg) rs2143529925
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter) rs1199670660
NM_000135.4(FANCA):c.1750del (p.Leu584fs) rs2143424348
NM_000135.4(FANCA):c.1795del (p.Ser599fs) rs2143422776
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) rs2143336220
NM_000135.4(FANCA):c.2368del (p.His790fs) rs2143333169
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del) rs2143307773
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del) rs2143308232
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del) rs2143139177
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239+2T>G rs1567603724
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.3409-2A>C rs2143107119
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) rs2062115558
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) rs986710868
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) rs2062046121
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4:c.1019_*580del
NM_000135.4:c.1471_2853del
NM_000135.4:c.1626_2602del
NM_000135.4:c.1901_3240del
NM_000135.4:c.284_1627del
NM_000135.4:c.2853_*580del
NM_000135.4:c.710_894del
NM_000135.4:c.874_2982del
NM_000135.4:c.894_2015del
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000314.8(PTEN):c.-326=
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_001018113.3(FANCB):c.2165+2T>G rs2147389062
NM_001018115.3(FANCD2):c.1413+2T>A rs1459222478
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.3793CTC[1] (p.Leu1266del) rs2125086057
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) rs2125105648
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) rs2124978557
NM_001018115.3(FANCD2):c.571-3C>G rs191386799
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) rs544848412
NM_001304717.5(PTEN):c.140GGC[5] (p.Arg52del)
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
NM_004629.2(FANCG):c.1076+3_1076+7del rs780410457
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) rs2131053817
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp) rs2131053797
NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter) rs2131053417
NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter) rs2131053086
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) rs1461242610
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter) rs1829123346
NM_005373.3(MPL):c.1277G>C (p.Arg426Pro)
NM_005373.3(MPL):c.12G>A (p.Trp4Ter) rs1647004673
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
NM_005373.3(MPL):c.205T>C (p.Tyr69His)
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.509_526delinsACTGGT (p.Arg170_Pro176delinsHisTrpSer)
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_018368.4(LMBRD1):c.562+4_562+7del
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) rs1767316710
NM_022725.4(FANCF):c.594_595del (p.Asn199fs) rs2133797345
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)
NM_198253.3(TERT):c.2053_2055del (p.Asp685del)

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