ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
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.5744G>A (p.Arg1915Gln) rs201882457 0.00002
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.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.301G>C (p.Ala101Pro) rs886052573
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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