List of variants in gene PIGA studied for paroxysmal nocturnal hemoglobinuria 1

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.525T>C (p.Leu175=)	rs61751426	0.00026
NM_002641.4(PIGA):c.849-19C>T	rs780237513	0.00002
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)	rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val)	rs2147724073
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)	rs1921817445
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met)	rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro)	rs1569180063
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.368C>T (p.Thr123Met)	rs1555945480
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)	rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg)	rs797044924

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