ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620 0.00001
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000212.3(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser) rs1688706297
NM_000312.4(PROC):c.199G>A (p.Glu67Lys) rs1448630830
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) rs2107346255
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124

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