ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4353+17G>A rs45581933 0.01445
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000257.4(MYH7):c.4353+6C>T rs765398896 0.00001
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=) rs397516219
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658

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