List of variants studied for Rhizomelic chondrodysplasia punctata type 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.207A>G (p.Ala69=)	rs34744592	0.02410
NM_003659.4(AGPS):c.261-5A>C	rs73029113	0.01813
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_003659.4(AGPS):c.147C>T (p.Pro49=)	rs34442536	0.01033
NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	rs36052691	0.00710
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	rs759572190	0.00069
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)	rs148418568	0.00062
NM_003659.4(AGPS):c.637+13C>T	rs182602770	0.00060
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	rs778087162	0.00034
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)	rs560217758	0.00031
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	rs767584572	0.00029
NM_003659.4(AGPS):c.1797+11A>G	rs375071040	0.00007
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	rs980211710	0.00005
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val)	rs867493363	0.00002
NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	rs764286061	0.00001
NM_003659.4(AGPS):c.1233+13AT[7]	rs200546003
NM_003659.4(AGPS):c.563-10del	rs3834134

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