List of variants in gene NBAS reported as uncertain significance for Infantile liver failure syndrome 2

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_015909.4(NBAS):c.3502G>A (p.Glu1168Lys)	rs140855946	0.00033
NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys)	rs553951049	0.00003
NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val)	rs767605543	0.00002
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)	rs1085307944	0.00001
NM_015909.4(NBAS):c.270G>C (p.Trp90Cys)	rs1664524026
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val)	rs1553367826
NM_015909.4(NBAS):c.4737C>A (p.Ser1579Arg)	rs2148158698
NM_015909.4(NBAS):c.5465_5467delinsCTT (p.Asn1822_Ile1823delinsThrPhe)	rs2148055634
NM_015909.4(NBAS):c.6237-10T>C	rs1666790331
NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)
NM_015909.4(NBAS):c.954+4848C>T	rs2148627761

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