List of variants in gene EXT1 reported as benign for connective tissue 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1761G>A (p.Glu587=)	rs7837891	0.36094
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)	rs11546829	0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)	rs17439693	0.17547
NM_000127.3(EXT1):c.-266C>T	rs76805972	0.04072
NM_000127.3(EXT1):c.114A>G (p.Glu38=)	rs17506447	0.01623
NM_000127.3(EXT1):c.-509C>G	rs78824154	0.01491
NM_000127.3(EXT1):c.117A>G (p.Glu39=)	rs78429222	0.00558
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)	rs142710059	0.00404
NM_000127.3(EXT1):c.-324C>G	rs144282710	0.00224
NM_000127.3(EXT1):c.1633-26C>A	rs188609829	0.00123
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)	rs148922894	0.00067
NM_000127.3(EXT1):c.741G>A (p.Glu247=)	rs148473091	0.00063
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)	rs61753261	0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)	rs143881630	0.00056
NM_000127.3(EXT1):c.1536+7G>A	rs200128437	0.00041
NM_000127.3(EXT1):c.99C>T (p.Ser33=)	rs147654656	0.00028
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu)	rs1176457130	0.00016
NM_000127.3(EXT1):c.1680C>T (p.Ala560=)	rs540101738	0.00010
NM_000127.3(EXT1):c.-500T>G	rs372210548	0.00009
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)	rs142122090	0.00009
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)	rs188859975	0.00008
NM_000127.3(EXT1):c.1161A>G (p.Leu387=)	rs200256697	0.00007
NM_000127.3(EXT1):c.2178C>T (p.Pro726=)	rs557560039	0.00005
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu)	rs183760697	0.00003
NM_000127.3(EXT1):c.1503C>G (p.Leu501=)	rs146108006	0.00003
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)	rs747703304	0.00001
NM_000127.3(EXT1):c.1057-12dup	rs775982542
NM_000127.3(EXT1):c.1537-16G>A
NM_000127.3(EXT1):c.962+8_962+11del	rs138812713

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