ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) rs372546520 0.00004
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) rs747434041 0.00001
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) rs199638486 0.00001
NM_002474.3(MYH11):c.5053T>C (p.Leu1685=) rs1057522597 0.00001
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.5637C>T (p.Val1879=) rs2040044641
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850

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