ClinVar Miner

List of variants reported as likely pathogenic by UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill

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ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000001.11:g.16991849_16991850CA[1]
NC_000007.14:g.141621734_141621735AT[1]
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu)
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.4(F11):c.1608G>C (p.Lys536Asn)
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_001001547.3(CD36):c.787_808del (p.Val263fs)
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001277115.2(DNAH11):c.6983+1G>A
NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter)
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs)
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His) rs151279101
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005373.3(MPL):c.1192del (p.Trp398fs)
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211
NM_018076.5(ARMC4):c.2219G>A (p.Trp740Ter) rs201213030
NM_018122.5(DARS2):c.493-1G>C
NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter)
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
NM_020745.4(AARS2):c.2599-1G>A
NM_022089.4(ATP13A2):c.558-1G>T
NM_022464.5(SIL1):c.645+2T>C
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024596.5(MCPH1):c.2214+2T>C
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu)
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)

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