List of variants reported as benign for Rhizomelic chondrodysplasia punctata type 3 by Illumina Laboratory Services, Illumina

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.*4253C>A	rs10803912	0.83746
NM_003659.4(AGPS):c.*4974T>C	rs2293475	0.83675
NM_003659.4(AGPS):c.*1866A>G	rs10930795	0.82837
NM_003659.4(AGPS):c.*3558C>T	rs8941	0.72163
NM_003659.4(AGPS):c.*4821C>T	rs28576781	0.03281
NM_003659.4(AGPS):c.207A>G (p.Ala69=)	rs34744592	0.02410
NM_003659.4(AGPS):c.*2636G>C	rs77450843	0.02159
NM_003659.4(AGPS):c.*4618A>G	rs75827012	0.02017
NM_003659.4(AGPS):c.261-5A>C	rs73029113	0.01813
NM_003659.4(AGPS):c.*552T>G	rs115060780	0.01756
NM_003659.4(AGPS):c.*1106A>T	rs116688077	0.01515
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	rs36052691	0.00710
NM_003659.4(AGPS):c.*3894A>G	rs74988186	0.00708
NM_003659.4(AGPS):c.*1719G>A	rs182366015	0.00706
NM_003659.4(AGPS):c.*1364A>G	rs144780787	0.00608
NM_003659.4(AGPS):c.*4098C>T	rs115549933	0.00496
NM_003659.4(AGPS):c.*2091T>C	rs16865338	0.00368
NM_003659.4(AGPS):c.*2548A>G	rs76966937	0.00233
NM_003659.4(AGPS):c.*3045C>T	rs147676340	0.00071
NM_003659.4(AGPS):c.*865A>G	rs2293470	0.00066
NM_003659.4(AGPS):c.*377C>G	rs112754713
NM_003659.4(AGPS):c.*377C>T	rs112754713

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