ClinVar Miner

Variants with conflicting interpretations "pathogenic" from OMIM and "other" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000519.4(HBD):c.226C>G (p.Leu76Val) rs34430836 0.00002
HBB, HBB/HBD FUSION
HBB, HBB/HBD FUSION, HBD137DEL
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) rs137852495
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000518.4(HBB):c.182T>A (p.Val61Glu) rs33931779
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.5(HBA1):c.188_190del (p.Val63del) rs35672478
NM_000602.4(SERPINE1):c.-820_-817G(4_5) rs1799762
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412

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