List of variants in gene EXT1 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)	rs119103288
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)	rs119103290
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)	rs119103287
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)	rs119103287
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)	rs1554578798
NM_000127.3(EXT1):c.1469del (p.Leu490fs)	rs886039356
NM_000127.3(EXT1):c.1664dup (p.Asn555fs)	rs1586993159
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)	rs119103289
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs)	rs2130043564
NM_000127.3(EXT1):c.528_535del (p.Lys177fs)	rs587776540
NM_000127.3(EXT1):c.713del (p.Ser238fs)	rs2130042099
NM_000127.3(EXT1):c.962+1G>C	rs886039353
NM_000127.3(EXT1):c.962+3_962+6del	rs1586279285

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