List of variants reported as likely pathogenic for Neurodevelopmental disorder by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NC_000002.11:g.39053852_42501893dup
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)	rs1555349214
NM_007129.5:c.264T>G
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs)	rs1597454239
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys)	rs1581535605
NM_033109.5(PNPT1):c.420del (p.Leu141fs)	rs1572834021
Single allele

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