ClinVar Miner

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

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
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.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
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_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
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_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 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_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
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_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
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_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 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_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser) rs200832275 0.00001
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_000032.5(ALAS2):c.-15-2187T>C
NM_000032.5(ALAS2):c.680G>A (p.Arg227His)
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg) rs1593892264
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1812dup (p.Glu605fs)
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000186.4(CFH):c.320G>T (p.Gly107Val)
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000298.6(PKLR):c.1618+1G>A
NM_000298.6(PKLR):c.1618+1del
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.527+1G>T rs2100685111
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_001011.4(RPS7):c.-19+1G>C rs1064796859
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018115.3(FANCD2):c.1665dup (p.His556fs)
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001022.4(RPS19):c.24_31dup (p.Gln11delinsProTer)
NM_001022.4(RPS19):c.302G>A (p.Arg101His) rs2123284131
NM_001029.5(RPS26):c.119T>A (p.Val40Asp)
NM_001029.5(RPS26):c.312+5_312+21del
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.4350+5G>A rs200324164
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_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.61+2T>C
NM_002049.4(GATA1):c.220G>A (p.Val74Ile)
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
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_002948.5(RPL15):c.553G>A (p.Gly185Ser)
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_006363.6(SEC23B):c.279+2T>C
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_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_080669.6(SLC46A1):c.1253del (p.Leu418fs)
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
NM_198253.3(TERT):c.3033-2A>C

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