ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre and "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 11
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00005
NM_017547.4(FOXRED1):c.733+1G>A rs754952690 0.00003
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00001
NM_000137.4(FAH):c.577T>C (p.Cys193Arg) rs2505850621
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000492.4(CFTR):c.580-1G>C
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter) rs2542268784

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