ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000257.4(MYH7):c.4644+24G>T rs3729826 0.00312
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=) rs571704020 0.00004
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.4286T>C (p.Met1429Thr)
NM_000257.4(MYH7):c.4332G>A (p.Lys1444=) rs1064797183
NM_000257.4(MYH7):c.4449A>G (p.Lys1483=) rs558413189
NM_000257.4(MYH7):c.4577T>C (p.Leu1526Pro) rs1892237346
NM_000257.4(MYH7):c.4581G>A (p.Glu1527=) rs2138644369

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