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: 14
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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

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