List of variants in gene combination MYH11, NDE1 reported as likely pathogenic

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.4861A>C (p.Lys1621Gln)	rs34321232	0.00011
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs)	rs1596675237
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	rs747392139
NM_002474.3(MYH11):c.3963+1G>C	rs2151219802
NM_002474.3(MYH11):c.3963+1G>T
NM_002474.3(MYH11):c.3963+2T>C	rs111325146
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)	rs1057518938
NM_002474.3(MYH11):c.4366-1G>A	rs2151211152
NM_002474.3(MYH11):c.4578+1G>A	rs397514037
NM_002474.3(MYH11):c.4578+1G>C	rs397514037
NM_002474.3(MYH11):c.4578+1del
NM_002474.3(MYH11):c.4578+2dup	rs794728677
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)	rs1055960218
NM_002474.3(MYH11):c.4953+2T>C
NM_002474.3(MYH11):c.5083-1G>A	rs1596712899
NM_002474.3(MYH11):c.5171+2T>C
NM_002474.3(MYH11):c.5295+1G>C
NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr)	rs1596730121

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