List of variants in gene NBAS reported as pathogenic for bone disorder

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter)	rs143012720	0.00004
NM_015909.4(NBAS):c.3010C>T (p.Arg1004Ter)	rs780108348	0.00004
NM_015909.4(NBAS):c.6433-2A>G	rs200365734	0.00002
NM_015909.4(NBAS):c.2423+403G>C	rs961020996	0.00001
NM_015909.4(NBAS):c.4753C>T (p.Arg1585Ter)	rs765420811	0.00001
NM_015909.4(NBAS):c.5741G>A (p.Arg1914His)	rs369698072	0.00001
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter)	rs1131692171	0.00001
NBAS, ARG1585TER
NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs)	rs775395168
NM_015909.4(NBAS):c.2032C>T (p.Gln678Ter)
NM_015909.4(NBAS):c.4255del (p.Ser1419fs)	rs768154511
NM_015909.4(NBAS):c.5104del (p.Phe1701_Met1702insTer)	rs2148090502
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)	rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662

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