ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Brain atrophy

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Total variants: 11
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HGVS dbSNP
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg) rs147293860
NM_015466.4(PTPN23):c.2486C>T (p.Pro829Leu) rs138076291
NM_015466.4(PTPN23):c.2568_2594del (p.Val857_Pro865del) rs779096974
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg) rs770692989
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1]) rs760022693
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs) rs1576235873
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618

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