ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_017668.3(NDE1):c.*286G>A rs558625464 0.00322
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) rs141031021 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 0.00014
NM_002474.3(MYH11):c.3891C>T (p.Asn1297=) rs541280738 0.00013
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263 0.00012
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.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.3930G>A (p.Val1310=) rs369184213 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) rs747923542 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) rs141262029 0.00004
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=) rs767453646 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) rs764375446 0.00002
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) rs761957202 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) rs775908168 0.00001
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642 0.00001
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) rs776016983 0.00001
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) rs764020019 0.00001
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=) rs761000142 0.00001
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.3981A>G (p.Glu1327=)
NM_002474.3(MYH11):c.4071G>A (p.Glu1357=)
NM_002474.3(MYH11):c.4263C>T (p.Thr1421=)
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser) rs747923542
NM_002474.3(MYH11):c.4825C>A (p.Arg1609=) rs1055960218
NM_002474.3(MYH11):c.5062G>C (p.Asp1688His) rs1239423939
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5364G>A (p.Gln1788=) rs1064797209
NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met)
NM_002474.3(MYH11):c.5616A>C (p.Ala1872=)
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr) rs1596730121
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017668.3(NDE1):c.947+7069_947+7073del rs5815842
NM_017668.3(NDE1):c.948-9289T>C rs2151191747

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