List of variants in gene PIGQ reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)	rs372361502	0.00006
NM_004204.5(PIGQ):c.91G>A (p.Val31Met)	rs148273392	0.00006
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly)	rs559762174
NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)
NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)
NM_004204.5(PIGQ):c.1673del (p.Gly558fs)
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln)	rs750533490
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met)	rs771796362
NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro)	rs2151045576

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