List of variants reported as benign for microcephalic osteodysplastic primordial dwarfism by Genome-Nilou Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.8751+23dup	rs5844270	1.00000
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)	rs2839223	0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=)	rs8131546	0.88316
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)	rs6518289	0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=)	rs2839228	0.87375
NM_006031.6(PCNT):c.2610-5C>T	rs2839226	0.68609
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)	rs2073376	0.67500
NM_006031.6(PCNT):c.7914-16C>T	rs2839257	0.67468
NM_006031.6(PCNT):c.720+17T>C	rs9982233	0.67221
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)	rs2070426	0.48521
NM_006031.6(PCNT):c.8996+45C>A	rs2236616	0.33111
NM_006031.6(PCNT):c.721-7G>A	rs2839217	0.32249
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=)	rs3737438	0.32038
NM_006031.6(PCNT):c.9394-4T>C	rs2839260	0.14350
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	rs2249057

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