ClinVar Miner

List of variants reported as pathogenic 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: 40
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HGVS dbSNP gnomAD frequency
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_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
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.1344T>G (p.Tyr448Ter) rs1199670660
NM_000135.4(FANCA):c.1750del (p.Leu584fs) rs2143424348
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) rs2143336220
NM_000135.4(FANCA):c.2368del (p.His790fs) rs2143333169
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) rs2062046121
NM_000135.4:c.1019_*580del
NM_000135.4:c.1471_2853del
NM_000135.4:c.1626_2602del
NM_000135.4:c.284_1627del
NM_000135.4:c.2853_*580del
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_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) rs544848412
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)
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.205T>C (p.Tyr69His)
NM_005373.3(MPL):c.509_526delinsACTGGT (p.Arg170_Pro176delinsHisTrpSer)
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_018368.4(LMBRD1):c.562+4_562+7del
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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