ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center: Collection method of the submission from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center:
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Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810

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