List of variants studied for achondrogenesis type IA by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)	rs139539448	0.00217
NM_004239.4(TRIP11):c.202-2A>G	rs863223281
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)	rs1566860640
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs)	rs1294029121
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)	rs776935608
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	rs267607138

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