ClinVar Miner

List of variants reported as likely pathogenic by Johns Hopkins Genomics, Johns Hopkins University

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ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) rs750624044 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) rs374645146 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter) rs1799061745 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_001080467.3(MYO5B):c.3277-2A>G rs1212171741 0.00001
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys) rs2093663770 0.00001
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) rs973835010 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_002510.3(GPNMB):c.1330C>T (p.Arg444Ter) rs547758286 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_015512.5(DNAH1):c.5244+1G>A rs369746640 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
G6PD NARA rs587776730
NC_012920.1(MT-ND5):m.12923G>A
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser) rs1569540693
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del) rs2091710358
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000064.4(C3):c.75-1G>A
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp) rs1907549643
NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg)
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp) rs2043466446
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) rs1157557804
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser) rs79555199
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) rs754967981
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) rs1799216615
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.257+197_531-8del
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_001009944.3(PKD1):c.2865dup (p.Val956fs)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
NM_001032386.2(SUOX):c.810dup (p.Glu271Ter) rs1890647333
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) rs397516510
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His) rs2147251154
NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)
NM_001046.3(SLC12A2):c.2476-1G>C
NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) rs1594403511
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu) rs2093657978
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) rs2144772485
NM_001127222.2(CACNA1A):c.3989+1G>C rs587776693
NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)
NM_001267550.2(TTN):c.20449del (p.Ser6817fs) rs2079254006
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter) rs2154358498
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001273.5(CHD4):c.997G>T (p.Asp333Tyr)
NM_001277115.1:c.5554_6181-2105delinsGGTA
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) rs1827914094
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) rs900625437
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002430.3(MN1):c.3822del (p.Gly1275fs)
NM_002480.3(PPP1R12A):c.2676del (p.Ser893fs) rs1871420871
NM_002480.3(PPP1R12A):c.2677del (p.Ser893fs) rs1871420455
NM_002576.5(PAK1):c.1409T>G (p.Leu470Arg) rs1942648391
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003482.4(KMT2D):c.1223_1229dup (p.Pro411fs) rs1938142007
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) rs1163244913
NM_004525.3(LRP2):c.13568del (p.Asn4523fs) rs1685554004
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala) rs1592260393
NM_006009.4(TUBA1A):c.539C>T (p.Ala180Val) rs2121244643
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006494.4(ERF):c.1049del (p.Leu350fs) rs2036390617
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006929.5(SKIC2):c.2977dup (p.Met993fs) rs1582187890
NM_007315.4(STAT1):c.511G>C (p.Asp171His)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
NM_014712.3(SETD1A):c.3005_3006del (p.Glu1002fs)
NM_014712.3(SETD1A):c.46C>T (p.Gln16Ter) rs2056003750
NM_015100.4(POGZ):c.7del (p.Asp3fs)
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) rs2107453711
NM_015512.5(DNAH1):c.2254C>T (p.Arg752Ter)
NM_017617.5(NOTCH1):c.389del (p.Pro130fs) rs1843413593
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) rs1570938113
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg)
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_172351.3(CD46):c.944-1G>C
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_177559.3(CSNK2A1):c.367-1G>A rs2018375840
NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)
NM_182641.4(BPTF):c.8625dup (p.Asn2876Ter) rs1599044870
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699
NR_001566.3(TERC):n.95G>C rs1777963668

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