List of variants in gene CANT1 studied for Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met)	rs201181440	0.00021
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	rs587776896	0.00006
NM_001159773.2(CANT1):c.622G>A (p.Val208Met)	rs776735475	0.00004
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)	rs150181226	0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	rs377546036	0.00004
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)	rs761853610	0.00001
NM_001159773.2(CANT1):c.836-9G>A	rs538543007	0.00001
NM_001159773.2(CANT1):c.188del (p.Arg63fs)
NM_001159773.2(CANT1):c.267del (p.Asp89fs)
NM_001159773.2(CANT1):c.340G>A (p.Asp114Asn)
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)	rs267606702
NM_001159773.2(CANT1):c.632-5_661dup
NM_001159773.2(CANT1):c.71dup (p.Leu25fs)	rs763733217
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)	rs1361897950

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