ClinVar Miner

Variants with conflicting interpretations "risk factor" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine: Collection method of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313

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