List of variants reported as benign for rhizomelic chondrodysplasia punctata by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014236.4(GNPAT):c.915G>A (p.Glu305=)	rs574553	0.58786
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	rs11558492	0.15938
NM_003659.4(AGPS):c.207A>G (p.Ala69=)	rs34744592	0.02410
NM_003659.4(AGPS):c.261-5A>C	rs73029113	0.01813
NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe)	rs113480953	0.01765
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile)	rs11122266	0.01237
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=)	rs35033351	0.01197
NM_014236.4(GNPAT):c.925-17del	rs149282848	0.01076
NM_003659.4(AGPS):c.147C>T (p.Pro49=)	rs34442536	0.01033
NM_014236.4(GNPAT):c.525A>G (p.Leu175=)	rs6659098	0.01020
NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	rs36052691	0.00710
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)	rs34613633	0.00339
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=)	rs151138534	0.00005
NM_003659.4(AGPS):c.563-10del	rs3834134
NM_014236.4(GNPAT):c.569-11del	rs199905093

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