List of variants in gene OTOA reported as uncertain significance for autosomal recessive disease

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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_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro)	rs464696	0.00839
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)	rs138141474	0.00099
NM_144672.4(OTOA):c.268-677G>A	rs931046043	0.00007
NM_144672.4(OTOA):c.1440G>T (p.Gln480His)	rs201185187	0.00006
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg)	rs1377749598	0.00003
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)	rs140364490	0.00002
NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro)
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)	rs200689333
NM_144672.4(OTOA):c.1348A>G (p.Met450Val)	rs2141697579
NM_144672.4(OTOA):c.1792C>G (p.Leu598Val)	rs765408935
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val)	rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg)	rs1567391195
NM_144672.4(OTOA):c.774A>C (p.Leu258Phe)	rs2141672622
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)	rs372826296

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