ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) rs139418145 0.00006
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr) rs2040479391 0.00001
NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr)
NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu)
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser) rs2040340393
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) rs777249764
NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn)
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter) rs772155686
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)

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