List of variants in gene combination NPHP3-ACAD11, UBA5 reported as likely pathogenic 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.215G>A (p.Arg72His)	rs150313260	0.00004
NM_024818.6(UBA5):c.684G>A (p.Ala228=)	rs1313071575	0.00001
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)	rs61748106
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	rs374052333
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn)	rs772888455

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