List of variants in gene EXT1 reported as benign by GeneDx

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1537-51A>G	rs10955837	0.50801
NM_000127.3(EXT1):c.1722+202T>C	rs10955835	0.47020
NM_000127.3(EXT1):c.1633-154G>A	rs4382503	0.38686
NM_000127.3(EXT1):c.1761G>A (p.Glu587=)	rs7837891	0.36094
NM_000127.3(EXT1):c.1285-116G>A	rs4355803	0.27438
NM_000127.3(EXT1):c.1537-125G>A	rs4876757	0.26405
NM_000127.3(EXT1):c.1056+201A>G	rs17452694	0.25325
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)	rs11546829	0.23625
NM_000127.3(EXT1):c.1165-156G>T	rs9642837	0.23193
NM_000127.3(EXT1):c.1285-301C>T	rs4366105	0.22457
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)	rs17439693	0.17547
NM_000127.3(EXT1):c.1536+261A>G	rs2067866	0.10658
NM_000127.3(EXT1):c.1537-223A>G	rs10102974	0.10270
NM_000127.3(EXT1):c.1417+220T>G	rs10107623	0.09036
NM_000127.3(EXT1):c.1284+285C>T	rs17503377	0.09008
NM_000127.3(EXT1):c.1723-103C>G	rs17479145	0.08924
NM_000127.3(EXT1):c.-266C>T	rs76805972	0.04072
NM_000127.3(EXT1):c.962+78del	rs112373962	0.03380
NM_000127.2(EXT1):c.-774C>G	rs112317221	0.02171
NM_000127.3(EXT1):c.114A>G (p.Glu38=)	rs17506447	0.01623
NM_000127.3(EXT1):c.117A>G (p.Glu39=)	rs78429222	0.00558
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)	rs142122090	0.00009
NM_000127.3(EXT1):c.*144del	rs71739430
NM_000127.3(EXT1):c.1536+91_1536+99del	rs35834568
NM_000127.3(EXT1):c.962+287A>G	rs3757991
NM_000127.3(EXT1):c.962+8_962+11del	rs138812713

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