ClinVar Miner

Variants with conflicting interpretations "affects" from OMIM and "pathogenic" 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: 38
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HGVS dbSNP gnomAD frequency
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739 0.36260
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
UGT1A1*6 rs4148323 0.00891
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NC_000016.10:g.(?_72054504)_(?_72076977)del
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000574.5(CD55):c.261G>A (p.Trp87Ter) rs121909603
NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg) rs28934588
UGT1A1*28 rs3064744

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