ClinVar Miner

List of variants in gene MYH6 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) rs150081280 0.00208
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=) rs140800076 0.00199
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=) rs144957142 0.00090
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.1839C>G (p.Ser613=) rs138984258 0.00021
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=) rs146591697 0.00019
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=) rs727503232 0.00010
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=) rs753745013 0.00006
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=) rs753335327 0.00003
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter) rs532606047 0.00002
NM_002471.4(MYH6):c.3576G>A (p.Ala1192=) rs762573185 0.00002
NM_002471.4(MYH6):c.1486G>A (p.Val496Met) rs761085263 0.00001
NM_002471.4(MYH6):c.2152G>A (p.Gly718Arg) rs1197844622 0.00001
NM_002471.4(MYH6):c.5539C>T (p.Arg1847Trp) rs752718246 0.00001
NM_002471.4(MYH6):c.1076A>G (p.His359Arg) rs867092195
NM_002471.4(MYH6):c.1408G>C (p.Asp470His) rs777651128
NM_002471.4(MYH6):c.1610A>G (p.Glu537Gly) rs1555334438
NM_002471.4(MYH6):c.1867T>C (p.Ser623Pro)
NM_002471.4(MYH6):c.2024T>G (p.Ile675Ser)
NM_002471.4(MYH6):c.2091C>A (p.Cys697Ter) rs1891418103
NM_002471.4(MYH6):c.2329G>A (p.Glu777Lys)
NM_002471.4(MYH6):c.2425C>T (p.Arg809Cys)
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.2647C>A (p.Leu883Met) rs1595056756
NM_002471.4(MYH6):c.3043G>A (p.Glu1015Lys)
NM_002471.4(MYH6):c.3158C>T (p.Ala1053Val) rs2138597492
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3366G>T (p.Glu1122Asp) rs1427532095
NM_002471.4(MYH6):c.3507C>G (p.Arg1169=) rs1380062556
NM_002471.4(MYH6):c.3696C>G (p.Asp1232Glu)
NM_002471.4(MYH6):c.4140C>A (p.Asp1380Glu) rs199672166
NM_002471.4(MYH6):c.5344G>A (p.Glu1782Lys)
NM_002471.4(MYH6):c.5465G>A (p.Arg1822Gln) rs1298835458
NM_002471.4(MYH6):c.5648A>T (p.Gln1883Leu)
NM_002471.4(MYH6):c.747T>C (p.Ile249=)
NM_002471.4(MYH6):c.856A>G (p.Ile286Val) rs1566515400

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