ClinVar Miner

List of variants in gene ATR reported as likely pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_001184.4(ATR):c.2533-1G>A rs755272769 0.00001
NM_001184.4(ATR):c.2634-1G>A rs372271245 0.00001
NC_000003.11:g.(?_142168271)_(142226971_?)del
NC_000003.11:g.(?_142168271)_(142266772_?)del
NC_000003.11:g.(?_142231092)_(142232490_?)dup
NM_001184.4(ATR):c.1327A>T (p.Arg443Ter) rs2108485039
NM_001184.4(ATR):c.1491_1492insAA (p.Gln498fs)
NM_001184.4(ATR):c.1733-1G>A rs2108478067
NM_001184.4(ATR):c.1883_1884delinsCACAAG (p.Tyr628fs) rs2108477090
NM_001184.4(ATR):c.1885+1G>T
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.2342-1G>T
NM_001184.4(ATR):c.2976+1G>A rs2108456024
NM_001184.4(ATR):c.3171+1G>A rs199731535
NM_001184.4(ATR):c.3451-1G>A
NM_001184.4(ATR):c.3805C>T (p.Gln1269Ter) rs2108427429
NM_001184.4(ATR):c.3971_3974del (p.Asp1324fs) rs2108399800
NM_001184.4(ATR):c.4504-1G>C rs910635641
NM_001184.4(ATR):c.4853-2A>G
NM_001184.4(ATR):c.6078+1G>C
NM_001184.4(ATR):c.6319+2T>C rs1577513795
NM_001184.4(ATR):c.6320-2A>C
NM_001184.4(ATR):c.7042-1G>A
NM_001184.4(ATR):c.7761+2T>C rs1577488520

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