ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.4353+5G>A rs200436876 0.00006
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys) rs876661373 0.00006
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4354-7C>G rs370093487 0.00002
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile) rs753484341 0.00001
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) rs890401818 0.00001
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter) rs754829218 0.00001
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr) rs766909770 0.00001
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) rs727505329 0.00001
NM_000257.4(MYH7):c.4587C>A (p.Val1529=) rs148054271 0.00001
NM_000257.4(MYH7):c.4270G>A (p.Glu1424Lys) rs730880798
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4327G>C (p.Asp1443His) rs2138646412
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu) rs182311329
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.4441C>T (p.Leu1481Phe) rs767666398
NM_000257.4(MYH7):c.4457A>G (p.Asn1486Ser) rs2138645374
NM_000257.4(MYH7):c.4477G>T (p.Glu1493Ter) rs2138645254
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.4506C>A (p.Asn1502Lys)
NM_000257.4(MYH7):c.4532A>C (p.Asp1511Ala) rs730880802
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) rs397516222
NM_000257.4(MYH7):c.4563G>C (p.Lys1521Asn)
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro) rs767148171
NM_000257.4(MYH7):c.4588C>G (p.Arg1530Gly) rs397516225
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln) rs730880803
NM_000257.4(MYH7):c.4606G>T (p.Glu1536Ter) rs779315151
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.4(MYH7):c.4644+5G>C rs730880797

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