List of variants reported as likely pathogenic for Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)	rs150181226	0.00004
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)	rs761853610	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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