ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707 0.00002
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met) rs571517980 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.4204G>A (p.Glu1402Lys) rs764341540 0.00001
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680 0.00001
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) rs148433586 0.00001
NM_017668.3(NDE1):c.947+11990G>A rs745371874 0.00001
NM_017668.3(NDE1):c.948-3872G>A rs375652279 0.00001
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu) rs765030635
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_002474.3(MYH11):c.3983C>A (p.Thr1328Asn) rs2040665153
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg) rs1567699253
NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp)
NM_002474.3(MYH11):c.4896G>C (p.Gln1632His) rs2040393468
NM_002474.3(MYH11):c.4953+5G>A
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) rs777249764
NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu)
NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala)
NM_017668.3(NDE1):c.*630C>G rs2040672480

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