ClinVar Miner

Variants with conflicting interpretations "benign" from GeneReviews and "likely benign" from any submitter

Minimum review status of the submission from GeneReviews: Collection method of the submission from GeneReviews:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906

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