List of variants in gene NFIA studied for chromosome 1p32-p31 deletion syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=)	rs2236059	0.29650
NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)	rs2100414066
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.243dup (p.Asp82fs)	rs1646257371
NM_001134673.4(NFIA):c.28-2A>G	rs1646253231
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
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)	rs1064794841
NM_001134673.4(NFIA):c.89G>A (p.Trp30Ter)	rs1646254633

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