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: 58
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00076
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_052872.4(IL17F):c.254+1G>T rs117796773 0.00070
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly) rs8179206 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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