List of variants in gene PIGA studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp)	rs34422225	0.03093
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg)	rs61760986	0.00153
NM_002641.4(PIGA):c.525T>C (p.Leu175=)	rs61751426	0.00026
NM_002641.4(PIGA):c.273C>T (p.Tyr91=)	rs61730284	0.00020
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys)	rs761613346	0.00010
NM_002641.4(PIGA):c.1188G>A (p.Lys396=)	rs754561270	0.00008
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)	rs375401655	0.00007
NM_002641.4(PIGA):c.456G>A (p.Thr152=)	rs776453997	0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu)	rs202161781	0.00004
NM_002641.4(PIGA):c.92G>A (p.Arg31His)	rs758863767	0.00003
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)	rs769061128	0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr)	rs369608621	0.00002
NM_002641.4(PIGA):c.517G>A (p.Val173Met)	rs752395232	0.00002
NM_002641.4(PIGA):c.616A>G (p.Ile206Val)	rs201119959	0.00002
NM_002641.4(PIGA):c.1368T>C (p.Asp456=)	rs761116405	0.00001
NM_002641.4(PIGA):c.873A>G (p.Glu291=)	rs757121631	0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=)	rs777674120	0.00001
NM_002641.4(PIGA):c.91C>T (p.Arg31Cys)	rs780532806	0.00001
NM_002641.4(PIGA):c.1223C>T (p.Pro408Leu)
NM_002641.4(PIGA):c.1240G>A (p.Asp414Asn)
NM_002641.4(PIGA):c.1424G>T (p.Gly475Val)
NM_002641.4(PIGA):c.407A>G (p.His136Arg)	rs1602212104
NM_002641.4(PIGA):c.420C>T (p.Phe140=)	rs760682734
NM_002641.4(PIGA):c.53C>A (p.Ser18Tyr)
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	rs1057524256
NM_002641.4(PIGA):c.866C>T (p.Ala289Val)	rs2147717729
NM_002641.4(PIGA):c.927C>T (p.Ser309=)
NM_002641.4(PIGA):c.955G>A (p.Val319Met)	rs765961204
NM_002641.4(PIGA):c.98A>G (p.His33Arg)	rs797044924

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