ClinVar Miner

List of variants in gene ATR reported as uncertain significance for Seckel syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001184.3(ATR):c.-91C>G rs189343119 0.00159
NM_001184.4(ATR):c.3945+2dup rs537031994 0.00004
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975 0.00001
NM_001184.4(ATR):c.436A>G (p.Thr146Ala) rs765018743 0.00001
NM_001184.4(ATR):c.-29_-9delinsT rs1577732214
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup) rs756975919

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