ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
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ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_001042384.2(CEP63):c.129G>A (p.Trp43Ter) rs1164567042
NM_001042384.2(CEP63):c.930-1G>A rs752207334
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) rs387907327
NM_001184.4(ATR):c.6897+464C>G rs587777852
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.261+1G>C rs966888627
NM_001194998.2(CEP152):c.2694+1G>T rs1349385657
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_001286734.2(CENPE):c.2722G>A (p.Asp908Asn) rs144716013
NM_001286734.2(CENPE):c.3988A>G (p.Lys1330Glu) rs141488085
NM_002894.3(RBBP8):c.2287+53T>G rs587776883
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys) rs864622784
NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter) rs767664526
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996
NM_014264.5(PLK4):c.2811-5C>G rs724159995
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_020921.3(NIN):c.2482del (p.Arg828fs) rs747680111
NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg) rs187464517
NM_020921.3(NIN):c.5126A>G (p.Asn1709Ser) rs387907308
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) rs757613817
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) rs773917653

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