ClinVar Miner

List of variants reported as pathogenic for 12p12.1 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP
GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1
GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1
GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1
GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1
GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1
GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1
GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1
NC_000012.11:g.23979791_24033225del
NC_000012.12:g.23484745_23564581del
NC_000012.12:g.23488792_23626279del
NC_000012.12:g.23771866_23888764del
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) rs869025321
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1465dup (p.Leu489fs) rs1592099396
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) rs895607185
NM_006940.6(SOX5):c.1597+2T>A rs1555141265
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) rs1591833842
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) rs1591833522
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) rs1591833497
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) rs1594078334
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) rs1593090725

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