List of variants in gene PIGA reported as likely pathogenic for congenital nervous system disorder

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)	rs1060499666
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	rs2147714706
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)	rs1921817445
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)	rs1602206514
NM_002641.4(PIGA):c.145G>A (p.Val49Met)	rs1569180100
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr)	rs1602212285
NM_002641.4(PIGA):c.1A>G (p.Met1Val)	rs1922179572
NM_002641.4(PIGA):c.242G>A (p.Arg81His)	rs1922162801
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met)	rs1555945480
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)	rs1060499625
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	rs1555945553
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)	rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg)	rs797044924

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