List of variants reported as benign for Microcephalic osteodysplastic primordial dwarfism type II by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
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.721-7G>A	rs2839217	0.32249
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)	rs2070425	0.24579
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)	rs60444527	0.18604
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)	rs2073380	0.17969
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)	rs61735805	0.03082
NM_006031.6(PCNT):c.8752-5A>C	rs149444205	0.00573
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	rs2249057
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA	rs59957960

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