List of variants in gene PIGA reported as benign 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: 33

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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.716-10A>G	rs375371562	0.00013
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)	rs201361742	0.00010
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.384T>C (p.His128=)	rs750216116	0.00007
NM_002641.4(PIGA):c.96C>G (p.Thr32=)	rs750555194	0.00005
NM_002641.4(PIGA):c.198G>A (p.Lys66=)	rs762748091	0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu)	rs202161781	0.00004
NM_002641.4(PIGA):c.981+8G>A	rs778602062	0.00004
NM_002641.4(PIGA):c.120C>T (p.Asp40=)	rs200475470	0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)	rs142772459	0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His)	rs758863767	0.00003
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr)	rs768749706	0.00002
NM_002641.4(PIGA):c.1188+4T>C	rs751261624	0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)	rs769061128	0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr)	rs777795093	0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=)	rs766304305	0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr)	rs369608621	0.00002
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)	rs1174537633	0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala)	rs768321389	0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=)	rs777674120	0.00001
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)	rs1602206653
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.849-20C>T

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