ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute: Collection method of the submission from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796

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