ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre and "likely pathogenic" from Genome-Nilou Lab

Minimum review status of the submission from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre: Collection method of the submission from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs) rs747160538
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473

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