ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NC_000016.9:g.(?_15802668)_(15932109_?)del
NM_002474.3(MYH11):c.4116+1del rs2151219190
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) rs8046180
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs)
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) rs766136761
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) rs2151192622
NM_022844.2(MYH11):c.[4578+1G>T;5273G>A]

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