ClinVar Miner

List of variants in gene combination LOC126861896, MYH6 reported as benign for Hypertrophic cardiomyopathy 14

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.4914T>C (p.Ala1638=) rs178640 0.53346
NM_002471.4(MYH6):c.4651-17G>A rs2071634 0.23331
NM_002471.4(MYH6):c.4980C>T (p.Asp1660=) rs382872 0.07807
NM_002471.4(MYH6):c.4960-17A>T rs28730764 0.03950
NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala) rs61742476 0.03922
NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136 0.03900
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_002471.4(MYH6):c.4899C>T (p.His1633=) rs61742474 0.00517
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00130
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002471.4(MYH6):c.4683C>T (p.Leu1561=) rs559319718
NM_002471.4(MYH6):c.4959+11del rs753018745

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