List of variants in gene combination EPG5, LOC126862737 reported as uncertain significance for Vici syndrome

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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_020964.3(EPG5):c.1312G>A (p.Val438Ile)	rs750946464	0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro)	rs746862679	0.00001
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu)	rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)
NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu)	rs200123131
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val)	rs2143722158
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)
NM_020964.3(EPG5):c.1358A>T (p.His453Leu)

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