ClinVar Miner

List of variants reported as likely pathogenic by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

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ClinVar version:
Total variants: 98
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HGVS dbSNP
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000050.4(ASS1):c.689G>C (p.Gly230Ala) rs1085307056
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000056.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000091.4(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000183.3(HADHB):c.209+1G>A rs113112630
NM_000213.5(ITGB4):c.5329+2T>C rs762236241
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000310.3(PPT1):c.1A>G (p.Met1Val) rs1085307087
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001001547.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_001042384.2(CEP63):c.182_185dup (p.Lys62delinsAsnTer) rs746387482
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001084.5(PLOD3):c.1890T>G (p.Tyr630Ter) rs748105435
NM_001113378.1(FANCI):c.158-2A>G rs762128147
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001142301.1(TMEM67):c.1110del (p.Glu371fs) rs749435317
NM_001146040.2(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_001320252.2(GORAB):c.-58_-57del rs1085307068
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795
NM_001902.6(CTH):c.793C>T (p.Arg265Ter) rs773107808
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter) rs1085307066
NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter) rs141784184
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_002420.6(TRPM1):c.1870C>T (p.Arg624Cys) rs387906862
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799
NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) rs56126236
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) rs1085307101
NM_004260.3(RECQL4):c.1390+1G>T rs1085307090
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004525.3(LRP2):c.188-2A>G rs760114690
NM_005208.4(CRYBA1):c.500+1G>A rs775038545
NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala) rs200856070
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del) rs1085307096
NM_006073.4(TRDN):c.568dup (p.Ile190fs) rs1085307100
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001
NM_007294.3(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_014080.4(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_014080.4(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_014270.5(SLC7A9):c.88-2A>G rs1085307095
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter) rs780579562
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015120.4(ALMS1):c.3784G>T (p.Glu1262Ter) rs1085307054
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter) rs751181600
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) rs761447719
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_025137.4(SPG11):c.2790del (p.Cys931fs) rs1085307097
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971
NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) rs201835496
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139

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