List of variants in gene PIK3CD studied for multiple congenital anomalies/dysmorphic syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005026.5(PIK3CD):c.2348-30C>T	rs11589267	0.33011
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=)	rs11121484	0.22663
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)	rs28730671	0.00483
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)	rs143168081	0.00114
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)	rs141200414	0.00028
NM_005026.5(PIK3CD):c.2997+10G>A	rs377699493	0.00009
NM_005026.5(PIK3CD):c.1955+5C>T	rs201785210	0.00001
NM_005026.5(PIK3CD):c.2161C>T (p.Gln721Ter)	rs2100976217
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423

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