ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
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_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_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_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_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
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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