ClinVar Miner

List of variants in gene TRIP11 reported as pathogenic for achondrogenesis type IA

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710Cysfs)
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768Lysfs)
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.3352_3353delGA (p.Glu1118Ilefs)
NM_004239.4(TRIP11):c.617_618delCT (p.Ser206Terfs)
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NP_004230.2(TRIP11):p.Trp1224Ter

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