List of variants reported for Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity by Revvity Omics, Revvity

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015466.4(PTPN23):c.3484C>T (p.Arg1162Trp)	rs147400377	0.00068
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)	rs150712932	0.00016
NM_015466.4(PTPN23):c.4106G>A (p.Arg1369His)	rs201950738	0.00009
NM_015466.4(PTPN23):c.2628G>A (p.Ala876=)	rs141082182	0.00005
NM_015466.4(PTPN23):c.4034G>A (p.Arg1345His)	rs560276745	0.00003
NM_015466.4(PTPN23):c.1708C>T (p.Arg570Cys)	rs765847614	0.00001
NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)	rs780877957	0.00001
NM_015466.4(PTPN23):c.3995G>A (p.Arg1332His)	rs730882229	0.00001
NM_015466.4(PTPN23):c.759T>A (p.His253Gln)	rs139838618	0.00001
NM_015466.4(PTPN23):c.1004-4C>G	rs200658102
NM_015466.4(PTPN23):c.2248C>G (p.Pro750Ala)	rs199549354
NM_015466.4(PTPN23):c.3773C>T (p.Pro1258Leu)	rs146178681
NM_015466.4(PTPN23):c.4609T>A (p.Ser1537Thr)	rs751979044
NM_015466.4(PTPN23):c.4849A>T (p.Thr1617Ser)	rs2546262209

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