List of variants in gene MYH3 reported as likely benign for Freeman-Sheldon syndrome

Minimum submission review status:		Collection method:
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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.5457+9dup	rs397750512	0.58793
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)	rs34165480	0.00311
NM_002470.4(MYH3):c.4109C>T (p.Ala1370Val)	rs200964415	0.00017
NM_002470.4(MYH3):c.*39G>A	rs372305218	0.00016
NM_002470.4(MYH3):c.297G>A (p.Glu99=)	rs375498642	0.00006
NM_002470.4(MYH3):c.5253C>T (p.Asn1751=)	rs751137584	0.00005
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)	rs147024680	0.00004
NM_002470.4(MYH3):c.4203C>T (p.Ser1401=)	rs746562608	0.00003
NM_002470.4(MYH3):c.4752C>T (p.Ile1584=)	rs189005323	0.00003
NM_002470.4(MYH3):c.5299G>A (p.Ala1767Thr)	rs773612935	0.00002
NM_002470.4(MYH3):c.298C>T (p.Pro100Ser)	rs767400961	0.00001
NM_002470.4(MYH3):c.4238C>T (p.Ala1413Val)	rs757083529	0.00001
NM_002470.4(MYH3):c.505+12A>G	rs200031876	0.00001
NM_002470.4(MYH3):c.800-5T>A	rs755904046	0.00001
NM_002470.4(MYH3):c.1960-17dup	rs3216884
NM_002470.4(MYH3):c.1960-8del	rs3216884
NM_002470.4(MYH3):c.5052C>G (p.Ala1684=)	rs149260479
NM_002470.4(MYH3):c.5607G>T (p.Val1869=)	rs753515010

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