List of variants in gene PIGA reported as pathogenic for complex neurodevelopmental disorder

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)	rs587777399
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	rs387906726
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	rs2147714706
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)	rs1921817809
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)	rs587777398
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu)	rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe)	rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs)	rs587777397
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	rs1057524256

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