List of variants reported as pathogenic for achondrogenesis type IA by Invitae

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Total variants: 5

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HGVS	dbSNP
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs)	rs1566859264
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer)	rs1566867763
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs)

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