ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 45
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288 0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058

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