List of variants reported as likely pathogenic for perceptual disorders by Solve-RD Consortium

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)	rs2132871580
NM_001031710.3(KLHL7):c.618+1G>A	rs1554289078
NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	rs1553121072

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