ClinVar Miner

List of variants in gene combination MYH11, NDE1 studied for MYH11-related condition

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Total variants: 36
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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.4604G>A (p.Arg1535Gln) rs137934837 0.00216
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.4177G>C (p.Gly1393Arg) rs143620567 0.00050
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) rs141031021 0.00016
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) rs190675029 0.00006
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) rs760286479 0.00004
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) rs150860193 0.00003
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) rs756832190 0.00001
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) rs901502893 0.00001
NM_002474.3(MYH11):c.5760G>A (p.Glu1920=) rs199997929 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_002474.3(MYH11):c.4092C>G (p.Arg1364=)
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4284G>A (p.Glu1428=)
NM_002474.3(MYH11):c.4312A>G (p.Asn1438Asp)
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) rs755547393
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) rs777249764
NM_002474.3(MYH11):c.5679C>T (p.Ser1893=)
NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) rs2040033952
NM_002474.3(MYH11):c.5865G>A (p.Glu1955=)

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