ClinVar Miner

List of variants in gene combination MYH2, MYHAS reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.3585G>A (p.Ala1195=) rs143988052 0.00068
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=) rs573063758 0.00036
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=) rs761795343 0.00004
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro) rs886044672 0.00002
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.1417-6A>C rs1555571354
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267

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