ClinVar Miner

List of variants studied for anemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (280):
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ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947 0.00004
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) rs2082214097
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) rs1704930969
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)

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