List of variants in gene NFIA reported as uncertain significance by Ambry Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.112C>T (p.Arg38Ter)	rs1553149167
NM_001134673.4(NFIA):c.113G>A (p.Arg38Gln)	rs1553149169
NM_001134673.4(NFIA):c.1282C>T (p.His428Tyr)
NM_001134673.4(NFIA):c.1316C>G (p.Pro439Arg)
NM_001134673.4(NFIA):c.1459G>C (p.Val487Leu)
NM_001134673.4(NFIA):c.148_150del (p.Lys50del)	rs1553149171
NM_001134673.4(NFIA):c.1513-3C>T
NM_001134673.4(NFIA):c.254C>A (p.Pro85His)
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	rs886039429
NM_001134673.4(NFIA):c.559+1G>T	rs1646262775
NM_001134673.4(NFIA):c.62C>G (p.Pro21Arg)
NM_001134673.4(NFIA):c.728A>G (p.Asn243Ser)
NM_001134673.4(NFIA):c.769A>G (p.Met257Val)
NM_001134673.4(NFIA):c.887G>C (p.Gly296Ala)
NM_001134673.4(NFIA):c.961A>G (p.Thr321Ala)

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