ClinVar Miner

List of variants in gene ATR studied for Seckel syndrome 1

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Total variants: 141
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HGVS dbSNP
NM_001184.4(ATR):c.*102C>T rs0
NM_001184.4(ATR):c.*72T>G rs750327573
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp) rs886058056
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) rs535140939
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453
NM_001184.4(ATR):c.1350-3T>C rs587783323
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln) rs371350410
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile) rs0
NM_001184.4(ATR):c.151+4A>G rs1481733213
NM_001184.4(ATR):c.152-9T>C rs748613519
NM_001184.4(ATR):c.1620C>T (p.Tyr540=) rs0
NM_001184.4(ATR):c.1764A>G (p.Glu588=) rs0
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys) rs0
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.1885+7G>A rs74282951
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter) rs1378333855
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs0
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
NM_001184.4(ATR):c.2162T>C (p.Met721Thr) rs0
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945
NM_001184.4(ATR):c.225C>T (p.Ile75=) rs886058059
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932
NM_001184.4(ATR):c.2493A>G (p.Ile831Met) rs0
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163
NM_001184.4(ATR):c.2532+4G>A rs190596919
NM_001184.4(ATR):c.2532+8A>G rs0
NM_001184.4(ATR):c.260G>T (p.Ser87Ile) rs200407265
NM_001184.4(ATR):c.2634-1G>A rs372271245
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250
NM_001184.4(ATR):c.2678T>C (p.Leu893Ser) rs0
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.2704T>C (p.Ser902Pro) rs146202702
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271
NM_001184.4(ATR):c.292+15T>G rs886058058
NM_001184.4(ATR):c.2946C>T (p.Phe982=) rs0
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs0
NM_001184.4(ATR):c.3069C>A (p.Val1023=) rs0
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.3161A>G (p.His1054Arg) rs0
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669
NM_001184.4(ATR):c.324G>A (p.Leu108=) rs0
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479
NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp) rs0
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001184.4(ATR):c.3497A>C (p.His1166Pro) rs201438783
NM_001184.4(ATR):c.3549A>G (p.Arg1183=) rs0
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val) rs0
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383
NM_001184.4(ATR):c.3820-4A>G rs0
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468
NM_001184.4(ATR):c.4153-15T>G rs0
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328
NM_001184.4(ATR):c.431T>G (p.Val144Gly) rs749942139
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542
NM_001184.4(ATR):c.4382+6T>C rs758074436
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys) rs0
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242
NM_001184.4(ATR):c.4592A>G (p.His1531Arg) rs0
NM_001184.4(ATR):c.4641+15C>T rs200619976
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.4(ATR):c.489T>C (p.Asn163=) rs886058057
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) rs1553761113
NM_001184.4(ATR):c.5004T>C (p.Asn1668=) rs0
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val) rs143806447
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys) rs0
NM_001184.4(ATR):c.5349G>T (p.Gln1783His) rs886058055
NM_001184.4(ATR):c.539G>A (p.Ser180Asn) rs0
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) rs387907327
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro) rs0
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser) rs587783334
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640
NM_001184.4(ATR):c.59+4G>A rs758046042
NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr) rs0
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln) rs0
NM_001184.4(ATR):c.6078+10T>C rs762754313
NM_001184.4(ATR):c.6079-14G>A rs886058053
NM_001184.4(ATR):c.6079-6T>A rs0
NM_001184.4(ATR):c.6090G>A (p.Ala2030=) rs201988169
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln) rs886058052
NM_001184.4(ATR):c.6198G>C (p.Arg2066=) rs0
NM_001184.4(ATR):c.6221+3G>A rs200980335
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) rs372864251
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp) rs0
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe) rs0
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827
NM_001184.4(ATR):c.6897+464C>G rs587777852
NM_001184.4(ATR):c.6960G>A (p.Lys2320=) rs752654793
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338
NM_001184.4(ATR):c.6G>T (p.Gly2=) rs0
NM_001184.4(ATR):c.7041+4G>C rs113544835
NM_001184.4(ATR):c.7041+8G>A rs201106004
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs0
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.7349+2T>C rs0
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile) rs0
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val) rs0
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln) rs0
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) rs0
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448

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