ClinVar Miner

List of variants reported as pathogenic by Sydney Children's Hospital, SCHN

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Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp22.2(chrX:10187807-10189796)
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.1601C>T (p.Ser534Leu) rs879255582
NM_001830.4(CLCN4):c.1630G>C (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.4(CLCN4):c.1876dup (p.Ile626fs) rs879255586
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.635T>G (p.Val212Gly) rs879255580
NM_001830.4(CLCN4):c.662T>C (p.Leu221Pro) rs879255581
NM_001830.4(CLCN4):c.823G>A (p.Val275Met) rs879255585
NM_001940.4(ATN1):c.3155A>C (p.His1052Pro) rs2138219892
NM_001940.4(ATN1):c.3160C>A (p.His1054Asn) rs1555144357
NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del) rs2138219913
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr) rs1555144358
NM_001940.4(ATN1):c.3188T>G (p.Leu1063Arg) rs1555144360
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu) rs1060499537

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