ClinVar Miner

List of variants reported as likely pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001042384.2(CEP63):c.182_185dup (p.Lys62delinsAsnTer) rs746387482
NM_001184.4(ATR):c.151+4A>G rs1481733213
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) rs1553761113
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001286734.2(CENPE):c.2722G>A (p.Asp908Asn) rs144716013
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018451.5(CENPJ):c.3367-1G>A rs763715733
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706

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