ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Baylor Genetics and "risk factor" from any submitter

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
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_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942

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