List of variants in gene combination EXT2, LOC126861201 reported as likely benign for Exostoses, multiple, type 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)	rs148753786	0.00011
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)	rs774039598	0.00005
NM_207122.2(EXT2):c.1495+9C>G	rs768311130	0.00004
NM_207122.2(EXT2):c.1461C>T (p.Val487=)	rs150758739	0.00003
NM_207122.2(EXT2):c.1306-7C>G	rs771232346	0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)	rs1166915261	0.00002
NM_207122.2(EXT2):c.1306-13T>C	rs749657208
NM_207122.2(EXT2):c.1306-14C>A
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)	rs1955474586
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)	rs2135185399
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup	rs1376958816

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