List of variants reported as likely pathogenic for syndromic intellectual disability by Lifecell International Pvt. Ltd

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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_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)	rs1131691266	0.00001
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)	rs2148612918
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)	rs796052236

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