List of variants in gene NFIA reported as likely pathogenic for autosomal anomaly

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)	rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)	rs2100520890
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)	rs1665711818
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs)	rs2100414172
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)	rs1553149202
NM_001134673.4(NFIA):c.352G>C (p.Asp118His)	rs1570123287
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)	rs769522583
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter)	rs2100414767

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