ClinVar Miner

List of variants reported as not provided for bone marrow disorder by GeneReviews

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) rs318240736
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.925-2A>G rs397507561

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