ClinVar Miner

Variants in gene combination MYH11, NDE1 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 72
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
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_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) rs146043349 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
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.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 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_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 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_017668.3(NDE1):c.*164A>C rs370252949 0.00010
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.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) rs147127121 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
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_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr) rs538145374 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=) rs761000142 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.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) rs755547393
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_017668.3(NDE1):c.*367T>C rs138543179
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017668.3(NDE1):c.948-3135C>T rs759760029
Single allele

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