List of variants in gene SPTBN2 reported as 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: 18

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HGVS	dbSNP	gnomAD frequency
NC_000011.9:g.(?_66472049)_(66473328_?)del
NM_006946.4(SPTBN2):c.1121G>T (p.Ser374Ile)
NM_006946.4(SPTBN2):c.1261_1263del (p.Glu421del)	rs886041245
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_006946.4(SPTBN2):c.1444C>T (p.Gln482Ter)	rs2135467951
NM_006946.4(SPTBN2):c.158-1G>T
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851
NM_006946.4(SPTBN2):c.3301G>T (p.Glu1101Ter)
NM_006946.4(SPTBN2):c.4233C>A (p.Tyr1411Ter)
NM_006946.4(SPTBN2):c.4801_4816del (p.Glu1601fs)
NM_006946.4(SPTBN2):c.5352dup (p.Asp1785Ter)	rs2135342205
NM_006946.4(SPTBN2):c.5515C>T (p.Gln1839Ter)	rs1166383301
NM_006946.4(SPTBN2):c.5630dup (p.Ile1878fs)
NM_006946.4(SPTBN2):c.6034+1G>A
NM_006946.4(SPTBN2):c.6722+1G>T
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	rs121918306

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