List of variants in gene NFIX reported as likely pathogenic for not provided

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: 22

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2
GRCh37/hg19 19p13.2(chr19:13135810-13136366)x1
NM_001365902.3(NFIX):c.130C>G (p.His44Asp)	rs2145191308
NM_001365902.3(NFIX):c.142A>G (p.Met48Val)
NM_001365902.3(NFIX):c.1495-1G>A
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)	rs1555696499
NM_001365902.3(NFIX):c.175G>A (p.Glu59Lys)	rs2145191691
NM_001365902.3(NFIX):c.317C>A (p.Ser106Tyr)
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
NM_001365902.3(NFIX):c.355T>C (p.Cys119Arg)
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)	rs2145192745
NM_001365902.3(NFIX):c.381G>T (p.Trp127Cys)	rs2145192782
NM_001365902.3(NFIX):c.383G>A (p.Arg128Gln)
NM_001365902.3(NFIX):c.421C>A (p.Pro141Thr)
NM_001365902.3(NFIX):c.445C>T (p.Arg149Trp)
NM_001365902.3(NFIX):c.488T>G (p.Val163Gly)	rs1057517936
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter)	rs786205515
NM_001365902.3(NFIX):c.553A>G (p.Thr185Ala)	rs1555696660
NM_001365902.3(NFIX):c.623-2A>T	rs2016886160
NM_001365902.3(NFIX):c.88T>C (p.Trp30Arg)
Single allele	rs1555696536

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