List of variants in gene combination LOC129997480, SYNE1 reported as uncertain significance for hereditary skeletal muscle disorder

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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: 21

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)	rs144244988	0.00010
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)	rs752135269	0.00009
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val)	rs763218931	0.00004
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)	rs753335678	0.00002
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln)	rs754105532	0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)	rs775815795	0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)	rs987594036	0.00001
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)	rs2095193468	0.00001
NM_182961.4(SYNE1):c.17347-13A>G
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser)	rs764611066
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp)	rs2153813360
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly)	rs2095195177
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)	rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)	rs918895767
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)	rs886042413
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)	rs2095191599
NM_182961.4(SYNE1):c.17494G>A (p.Asp5832Asn)
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)	rs2153813002
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr)	rs2095189465

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