ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Johns Hopkins Genomics, Johns Hopkins University and "uncertain significance" 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:
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Total variants with conflicting interpretations: 47
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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_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
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.489+3A>G rs377729736 0.00016
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_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
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_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
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.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_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
G6PD NARA rs587776730
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
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.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.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_172351.3(CD46):c.944-1G>C

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