List of variants in gene PLXNA1 reported as pathogenic for Dworschak-Punetha neurodevelopmental syndrome

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp)	rs762983679	0.00004
NM_032242.4(PLXNA1):c.3230G>A (p.Arg1077His)	rs772360004	0.00002
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter)	rs1204647586	0.00001
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs)	rs2079056783
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg)	rs2079109807
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro)	rs2107620082

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