ClinVar Miner

List of variants reported as likely benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764
NM_001194998.2(CEP152):c.*170T>C rs2169757
NM_001194998.2(CEP152):c.1577+6G>A rs78525896
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_001194998.2(CEP152):c.191+11G>A rs75503597
NM_001194998.2(CEP152):c.2019-13G>A rs9302144
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302
NM_001194998.2(CEP152):c.691+9C>T rs77732888
NM_002894.3(RBBP8):c.-194C>T rs116097101
NM_002894.3(RBBP8):c.-288G>A rs7244973
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569
NM_002894.3(RBBP8):c.1939+12A>G rs60178443
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414
NM_018451.5(CENPJ):c.*404_*405CT[1] rs141666267
NM_018451.5(CENPJ):c.*639T>C rs61947515
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.5(CENPJ):c.3367-12T>C rs3742163
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543

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