ClinVar Miner

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

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_130810.4(DNAAF4):c.784-1037_894-2012del

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