ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Johns Hopkins Genomics, Johns Hopkins University and "likely pathogenic" from any submitter

Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 94
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NC_012920.1:m.3243A>G rs199474657
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163

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