ClinVar Miner

List of variants in gene MYH7 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2443C>T (p.Gln815Ter) rs1064797184
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2761_2763del (p.Glu921del) rs1595081779
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3336+1G>C
NM_000257.4(MYH7):c.346-1G>A rs1057519221
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.599C>T (p.Ala200Val)

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