ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000377.3(WAS):c.753del (p.Trp252fs)
NM_000460.4(THPO):c.-64_-63dup
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525

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