ClinVar Miner

List of variants studied for anemia by MGZ Medical Genetics Center

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser) rs145053404 0.00081
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000096.4(CP):c.1039G>A (p.Gly347Ser) rs761317252 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000791.4(DHFR):c.335T>G (p.Met112Arg)
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001355436.2(SPTB):c.5178+1G>A
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002948.5(RPL15):c.130del (p.Arg44fs)
NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr)
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339

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