ClinVar Miner

List of variants in gene ATR reported as likely benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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

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