ClinVar Miner

List of variants in gene combination MYH2, MYHAS reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=) rs145796634 0.00104
NM_017534.6(MYH2):c.882G>A (p.Ser294=) rs201035972 0.00039
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017534.6(MYH2):c.3459C>T (p.Ser1153=) rs142095822 0.00010
NM_017534.6(MYH2):c.2601C>T (p.Asp867=) rs142129307 0.00006
NM_017534.6(MYH2):c.2265C>T (p.Ile755=) rs146411264 0.00004
NM_017534.6(MYH2):c.1005A>G (p.Thr335=) rs148584222 0.00001
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.222T>C (p.Asp74=)
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766

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