ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
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.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
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.2304+7T>G rs370223713 0.00034
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
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850

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