List of variants in gene PIGT reported as likely pathogenic for disorder of GPI anchor biosynthesis

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00006
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_015937.6(PIGT):c.188-2A>G	rs771691280	0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)	rs778531326	0.00002
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys)	rs774753616	0.00001
NM_015937.6(PIGT):c.1520_1521insCTCTACA (p.Leu508fs)
NM_015937.6(PIGT):c.17del (p.Pro6fs)
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro)	rs587777027
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)

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