ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "benign" 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: 51
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HGVS dbSNP
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) rs145035679
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_052872.4(IL17F):c.254+1G>T rs117796773
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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