ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) rs775908168 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala) rs1555551985
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5429C>A (p.Ser1810Tyr) rs1596704556

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