ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Leiden Open Variation Database and "benign" from any submitter

Minimum review status of the submission from Leiden Open Variation Database: Collection method of the submission from Leiden Open Variation Database:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_032043.3(BRIP1):c.1628+5G>A rs754929230

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