List of variants in gene ACTL6B reported as uncertain significance for complex neurodevelopmental 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	rs1584466132	0.00001
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	rs757603505	0.00001
NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His)	rs1803830368
NM_016188.5(ACTL6B):c.1016C>T (p.Pro339Leu)
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)	rs2131330754
NM_016188.5(ACTL6B):c.370-1G>A
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
NM_016188.5(ACTL6B):c.595A>T (p.Ile199Phe)
NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
NM_016188.5(ACTL6B):c.760-1G>A
NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys)	rs1803836293

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