ClinVar Miner

List of variants reported as likely benign for Seckel syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116 0.00007
NM_018451.5(CENPJ):c.*404CT[1] rs141666267

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