ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Biesecker Lab/Clinical Genomics Section, National Institutes of Health and "likely pathogenic" from any submitter

Minimum review status of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health: Collection method of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842

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