List of variants reported as benign for rhizomelic chondrodysplasia punctata by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A	rs927181	0.98050
NM_003659.4(AGPS):c.1362+79G>A	rs12468046	0.87026
NM_003659.4(AGPS):c.442-64C>T	rs3754989	0.85863
NM_014236.4(GNPAT):c.915G>A (p.Glu305=)	rs574553	0.58786
NM_003659.4(AGPS):c.1608-95T>A	rs2364854	0.57249
NM_014236.4(GNPAT):c.-44C>T	rs518686	0.54529
NM_000288.4(PEX7):c.130+48_130+53dup	rs11283064	0.50803
NM_001351132.2(PEX5):c.967-26C>G	rs3816424	0.29645
NM_000288.4(PEX7):c.340-103A>G	rs2295592	0.10001
NM_003659.4(AGPS):c.1856-16G>T	rs3213945	0.08514
NM_000288.4(PEX7):c.803+105A>C	rs72985582	0.04283
NM_000288.4(PEX7):c.-95T>C	rs1321471
NM_001351132.2(PEX5):c.147+77_147+121del

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