ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.183G>A (p.Thr61=) rs142539913 0.00745
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.3181C>G (p.Leu1061Val) rs142586585 0.00225
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.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.882G>A (p.Ser294=) rs201035972 0.00039
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 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.3459C>T (p.Ser1153=) rs142095822 0.00010
NM_017534.6(MYH2):c.2601C>T (p.Asp867=) rs142129307 0.00006
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
NM_017534.6(MYH2):c.2265C>T (p.Ile755=) rs146411264 0.00004
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met) rs775106499 0.00003
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn) rs767951536 0.00002
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter) rs758264018 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.1005A>G (p.Thr335=) rs148584222 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn) rs372386851 0.00001
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys) rs1426839625 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3842C>T (p.Ala1281Val) rs756055649 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.1389G>A (p.Leu463=)
NM_017534.6(MYH2):c.1720G>T (p.Gly574Cys) rs1290157496
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser) rs2142307936
NM_017534.6(MYH2):c.222T>C (p.Asp74=)
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro) rs886052573
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.4326del (p.Asn1442fs)
NM_017534.6(MYH2):c.465C>A (p.Ile155=) rs777358650
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)

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