ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Biology Laboratory, Fundació Puigvert and "pathogenic" from any submitter

Minimum review status of the submission from Molecular Biology Laboratory, Fundació Puigvert: Collection method of the submission from Molecular Biology Laboratory, Fundació Puigvert:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) rs1694331040
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355

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