ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) rs890401818 0.00001
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) rs727505329 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4644+3G>A rs397516226 0.00001
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4330A>G (p.Lys1444Glu) rs397516210
NM_000257.4(MYH7):c.4354-2A>C rs727504734
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln) rs876657884
NM_000257.4(MYH7):c.4408T>C (p.Ser1470Pro) rs397516215
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) rs397516216
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile) rs397516217
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) rs397516222
NM_000257.4(MYH7):c.4540G>A (p.Glu1514Lys) rs397516223

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