ClinVar Miner

List of variants in gene MYH7 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.5559+8G>A rs377473156 0.00006
NM_000257.4(MYH7):c.5409C>T (p.Ile1803=) rs779713933 0.00003
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) rs587780395 0.00001
NM_000257.4(MYH7):c.3337-4dup rs45504498

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