ClinVar Miner

List of variants reported as uncertain significance for anemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (292):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
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_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 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_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser) rs200832275 0.00001
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg) rs1593892264
NM_000186.4(CFH):c.320G>T (p.Gly107Val)
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
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_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) rs2082214097
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_002049.4(GATA1):c.220G>A (p.Val74Ile)
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
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_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_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)

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