List of variants reported as likely pathogenic for Macrocephaly-developmental delay syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	rs766372684	0.00010
NM_007059.4(KPTN):c.394+1G>A	rs373139784	0.00006
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln)	rs772378754	0.00002
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)	rs372955218	0.00001
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	rs587777148
NM_007059.4(KPTN):c.754C>T (p.Arg252Ter)	rs1192367520
NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	rs1184981709

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