List of variants in gene NEXMIF reported as pathogenic 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter)	rs2080115006
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	rs886041701
NM_001008537.3(NEXMIF):c.1477_1480del (p.Leu493fs)
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs)	rs1556016642
NM_001008537.3(NEXMIF):c.1567dup (p.Trp523fs)	rs1569335666
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	rs786205208
NM_001008537.3(NEXMIF):c.2737del (p.Ser913fs)
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)	rs1602211123
NM_001008537.3(NEXMIF):c.3493C>T (p.Gln1165Ter)	rs1569335056
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs)	rs2080098372
NM_001008537.3(NEXMIF):c.826del (p.Cys276fs)

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