List of variants reported as likely pathogenic for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)	rs774808316	0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)	rs769236847	0.00004
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)	rs373774032	0.00002
NM_001673.5(ASNS):c.224A>G (p.Asn75Ser)	rs747624770	0.00002
NM_001673.5(ASNS):c.1165G>T (p.Glu389Ter)	rs948326794	0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)	rs773348232	0.00001
NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr)	rs749406391	0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	rs398122974	0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His)	rs552452349	0.00001
NM_001673.5(ASNS):c.277C>T (p.Gln93Ter)	rs757729851	0.00001
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)	rs1476175517	0.00001
NM_001673.5(ASNS):c.1030+1G>A	rs780288372
NM_001673.5(ASNS):c.1059del (p.Lys354fs)	rs2115616730
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	rs398122973
NM_001673.5(ASNS):c.1137+200_1137+205del
NM_001673.5(ASNS):c.1160A>G (p.Glu387Gly)	rs1584458744
NM_001673.5(ASNS):c.1165G>C (p.Glu389Gln)	rs948326794
NM_001673.5(ASNS):c.1174_1175dup (p.Leu393fs)
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)	rs1166271142
NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys)	rs1792120689
NM_001673.5(ASNS):c.1237_1238+5del
NM_001673.5(ASNS):c.1283del (p.Tyr428fs)
NM_001673.5(ASNS):c.1320+1G>C	rs1791277284
NM_001673.5(ASNS):c.1578C>A (p.Tyr526Ter)
NM_001673.5(ASNS):c.1A>G (p.Met1Val)	rs2115755676
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr)	rs1554350554
NM_001673.5(ASNS):c.413A>C (p.Asp138Ala)	rs797045306
NM_001673.5(ASNS):c.540del (p.Leu181fs)	rs866033169
NM_001673.5(ASNS):c.666_667del (p.Phe223fs)	rs750420071
NM_001673.5(ASNS):c.706del (p.Arg236fs)	rs1791584683
NM_001673.5(ASNS):c.750_753del (p.Asp250fs)	rs2115654584
NM_001673.5(ASNS):c.883G>A (p.Asp295Asn)	rs781581679

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