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: 34
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HGVS dbSNP
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448
NM_001194998.2(CEP152):c.*255T>C rs187213125
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042
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.*556A>C
NM_018451.5(CENPJ):c.*890T>C rs17480581
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197

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