List of variants reported as uncertain significance for Microcephalic osteodysplastic primordial dwarfism type II by Fulgent Genetics, Fulgent Genetics

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)	rs180775012	0.00074
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg)	rs148384323	0.00073
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)	rs370664761	0.00052
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	rs138962786	0.00041
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)	rs138254119	0.00038
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)	rs145055342	0.00032
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)	rs202161810	0.00029
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)	rs148389745	0.00029
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)	rs201176638	0.00016
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp)	rs572076735	0.00015
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)	rs149844283	0.00014
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)	rs200174202	0.00013
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)	rs202221024	0.00011
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His)	rs199936673	0.00009
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)	rs587784322	0.00007
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)	rs61735804	0.00006
NM_006031.6(PCNT):c.1457-5T>A	rs769237607	0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)	rs574728262	0.00004
NM_006031.6(PCNT):c.139G>C (p.Asp47His)	rs112837071	0.00003
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu)	rs151230453	0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys)	rs751297741	0.00003
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg)	rs373432697	0.00003
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp)	rs137977081	0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)	rs772025323	0.00002
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)	rs762148129	0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)	rs758977418	0.00001
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)	rs138834119
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His)	rs986050062

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