ClinVar Miner

List of variants in gene MYH6 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=) rs74039310 0.00368
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
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.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) rs367834703 0.00006
NM_002471.4(MYH6):c.2217T>C (p.Asp739=) rs374177807 0.00002
NM_002471.4(MYH6):c.3327A>G (p.Lys1109=) rs755818414 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.5393G>A (p.Arg1798Gln) rs759281871 0.00001
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs) rs397516761
NM_002471.4(MYH6):c.3672C>G (p.Ser1224Arg) rs755267212
NM_002471.4(MYH6):c.3979-8C>T rs555976716

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