List of variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Revvity Omics, Revvity

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.358A>G (p.Met120Val)	rs377068982	0.00023
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)	rs72996036	0.00013
NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)	rs537298438	0.00003
NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)	rs768284272	0.00003
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)	rs763820362	0.00002
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)	rs371889945	0.00002
NM_015100.4(POGZ):c.284-3T>C	rs374645463	0.00001
NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)	rs774729338	0.00001
NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)	rs934192477	0.00001
NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)	rs1220465341	0.00001
NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)	rs768968029	0.00001
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)	rs776740035	0.00001
NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)	rs770810584
NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)	rs779465815
NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)	rs1283746447
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)	rs541476793
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs)	rs2102164714
NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)	rs1369813061
NM_015100.4(POGZ):c.2570+1G>T	rs2102152727
NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)	rs1042613899
NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)	rs2529198059
NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)	rs2529192477
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg)	rs556553243

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