ClinVar Miner

List of variants reported as likely pathogenic by Precision Medicine Center,Zhengzhou University

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ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399
NM_000041.4(APOE):c.494G>C (p.Arg165Pro)
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
NM_000169.3(GLA):c.878C>T (p.Pro293Leu)
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
NM_003361.4(UMOD):c.1196A>G (p.His399Arg)
NM_003361.4(UMOD):c.203A>T (p.Glu68Val)
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln)
NM_004646.4(NPHS1):c.2512C>A (p.Pro838Thr)
NM_005560.6(LAMA5):c.1538G>A (p.Gly513Glu)
NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)
NM_005560.6(LAMA5):c.5315C>T (p.Thr1772Met)
NM_005560.6(LAMA5):c.6859C>T (p.Arg2287Cys)
NM_005560.6(LAMA5):c.7051C>T (p.Arg2351Trp)
NM_005560.6(LAMA5):c.8488G>A (p.Ala2830Thr)
NM_005560.6(LAMA5):c.8674C>T (p.Arg2892Cys)
NM_005560.6(LAMA5):c.9700_9728del (p.Leu3234fs)
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe)
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp)
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys)
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro)
NM_033380.3(COL4A5):c.2395+3A>G
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp)
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val)
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser)
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg)
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys)
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly)
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)

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