List of variants in gene DHX16 reported as uncertain significance for Neuromuscular disease and ocular or auditory anomalies with or without seizures

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003587.5(DHX16):c.2818C>T (p.Arg940Cys)	rs199903836	0.00007
NM_003587.5(DHX16):c.646G>A (p.Glu216Lys)	rs539487104	0.00007
NM_003587.5(DHX16):c.1138C>T (p.Pro380Ser)	rs572784064	0.00002
NM_003587.5(DHX16):c.2566C>T (p.Arg856Ter)	rs891765304	0.00001
NM_003587.5(DHX16):c.2789G>A (p.Ser930Asn)	rs1368963520	0.00001
NM_003587.5(DHX16):c.2867G>A (p.Arg956Gln)	rs1447358889	0.00001
NM_003587.5(DHX16):c.1126-3T>C	rs367757181
NM_003587.5(DHX16):c.1609A>G (p.Lys537Glu)	rs2534420890
NM_003587.5(DHX16):c.1637T>A (p.Leu546His)
NM_003587.5(DHX16):c.1661C>T (p.Thr554Ile)
NM_003587.5(DHX16):c.1742TCT[1] (p.Phe582del)	rs1561978781
NM_003587.5(DHX16):c.1990C>T (p.Pro664Ser)
NM_003587.5(DHX16):c.2827A>G (p.Ile943Val)	rs1401661168
NM_003587.5(DHX16):c.313G>A (p.Glu105Lys)
NM_003587.5(DHX16):c.447-1G>A	rs2534557224
NM_003587.5(DHX16):c.468_469del (p.Lys157fs)	rs540024165

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