ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) rs767584572 0.00029
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00011
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00003
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041

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