ClinVar Miner

List of variants reported as likely benign for Seckel syndrome 1

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ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001184.4(ATR):c.6726T>C (p.His2242=) rs56030954 0.00113
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_001184.4(ATR):c.7632T>A (p.Arg2544=) rs144427735 0.00090
NM_001184.4(ATR):c.195C>T (p.Ser65=) rs139304565 0.00082
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001184.4(ATR):c.5931A>G (p.Gln1977=) rs150964938 0.00069
NM_001184.4(ATR):c.5601T>C (p.Leu1867=) rs138891875 0.00062
NM_001184.4(ATR):c.7411C>T (p.Leu2471=) rs150286172 0.00041
NM_001184.4(ATR):c.3372A>G (p.Gln1124=) rs142903351 0.00036
NM_001184.4(ATR):c.4267-12A>G rs374421247 0.00024
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.2088C>T (p.Val696=) rs202050285 0.00015
NM_001184.4(ATR):c.3888T>C (p.Asn1296=) rs143268462 0.00015
NM_001184.4(ATR):c.3183A>G (p.Glu1061=) rs138025798 0.00014
NM_001184.4(ATR):c.4944C>G (p.Ser1648=) rs200668215 0.00011
NM_001184.4(ATR):c.7839G>A (p.Pro2613=) rs371176601 0.00011
NM_001184.4(ATR):c.276C>G (p.Ala92=) rs369461039 0.00009
NM_001184.4(ATR):c.7488T>C (p.Asn2496=) rs369200535 0.00009
NM_001184.4(ATR):c.4447T>C (p.Leu1483=) rs577577577 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001184.4(ATR):c.3327C>T (p.Gly1109=) rs147717467 0.00007
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116 0.00007
NM_001184.4(ATR):c.303T>C (p.Asn101=) rs1397771631 0.00006
NM_001184.4(ATR):c.6126T>C (p.Leu2042=) rs200445478 0.00006
NM_001184.4(ATR):c.1308G>A (p.Ser436=) rs546642861 0.00005
NM_001184.4(ATR):c.1488C>T (p.Val496=) rs774470632 0.00005
NM_001184.4(ATR):c.1878T>C (p.Asp626=) rs370033429 0.00005
NM_001184.4(ATR):c.2850G>A (p.Pro950=) rs769928724 0.00005
NM_001184.4(ATR):c.6327C>T (p.Arg2109=) rs147210068 0.00005
NM_001184.4(ATR):c.24G>A (p.Leu8=) rs373166003 0.00004
NM_001184.4(ATR):c.2922G>A (p.Thr974=) rs763559215 0.00004
NM_001184.4(ATR):c.3891C>T (p.Val1297=) rs535173549 0.00004
NM_001184.4(ATR):c.4281T>A (p.Ile1427=) rs374108762 0.00004
NM_001184.4(ATR):c.5166T>C (p.Tyr1722=) rs368448214 0.00004
NM_001184.4(ATR):c.5217A>G (p.Val1739=) rs759675282 0.00004
NM_001184.4(ATR):c.5271T>C (p.Asn1757=) rs769552527 0.00004
NM_001184.4(ATR):c.5316G>A (p.Thr1772=) rs146463402 0.00004
NM_001184.4(ATR):c.1182C>T (p.Gly394=) rs761676898 0.00003
NM_001184.4(ATR):c.177T>C (p.Thr59=) rs781380334 0.00003
NM_001184.4(ATR):c.1791A>G (p.Pro597=) rs535766576 0.00003
NM_001184.4(ATR):c.1998A>G (p.Val666=) rs572889042 0.00003
NM_001184.4(ATR):c.4612C>T (p.Leu1538=) rs770454684 0.00003
NM_001184.4(ATR):c.5145G>A (p.Leu1715=) rs140570011 0.00003
NM_001184.4(ATR):c.5889C>T (p.Leu1963=) rs1032716786 0.00003
NM_001184.4(ATR):c.6459C>T (p.His2153=) rs374110291 0.00003
NM_001184.4(ATR):c.7407T>C (p.Tyr2469=) rs775964355 0.00003
NM_001184.4(ATR):c.7621A>C (p.Arg2541=) rs762108631 0.00003
NM_001184.4(ATR):c.1609T>C (p.Leu537=) rs1577697147 0.00002
NM_001184.4(ATR):c.1803C>G (p.Ser601=) rs758693664 0.00002
NM_001184.4(ATR):c.1842C>T (p.Ala614=) rs376207579 0.00002
NM_001184.4(ATR):c.2703A>C (p.Ala901=) rs201052932 0.00002
NM_001184.4(ATR):c.3198C>T (p.Ser1066=) rs754127656 0.00002
NM_001184.4(ATR):c.3513G>A (p.Arg1171=) rs1007131838 0.00002
NM_001184.4(ATR):c.3705C>T (p.His1235=) rs745769052 0.00002
NM_001184.4(ATR):c.3963T>C (p.Tyr1321=) rs1295861951 0.00002
NM_001184.4(ATR):c.4308C>T (p.Asn1436=) rs539337477 0.00002
NM_001184.4(ATR):c.4575C>T (p.Thr1525=) rs776809771 0.00002
NM_001184.4(ATR):c.4809A>G (p.Lys1603=) rs777880900 0.00002
NM_001184.4(ATR):c.5094A>G (p.Ala1698=) rs1331144637 0.00002
NM_001184.4(ATR):c.5856C>T (p.Leu1952=) rs778730760 0.00002
NM_001184.4(ATR):c.6855A>G (p.Pro2285=) rs780345174 0.00002
NM_001184.4(ATR):c.7425C>T (p.Asp2475=) rs749493772 0.00002
NM_001184.4(ATR):c.1002C>T (p.Leu334=) rs1199866818 0.00001
NM_001184.4(ATR):c.1335A>G (p.Pro445=) rs373034384 0.00001
NM_001184.4(ATR):c.1407A>G (p.Lys469=) rs1426268344 0.00001
NM_001184.4(ATR):c.1482T>C (p.Ala494=) rs1485392394 0.00001
NM_001184.4(ATR):c.1503T>A (p.Ala501=) rs747926818 0.00001
NM_001184.4(ATR):c.1566T>C (p.His522=) rs756945349 0.00001
NM_001184.4(ATR):c.1608A>G (p.Ser536=) rs976136379 0.00001
NM_001184.4(ATR):c.1858T>C (p.Leu620=) rs770769122 0.00001
NM_001184.4(ATR):c.2073T>A (p.Ile691=) rs773660116 0.00001
NM_001184.4(ATR):c.2157C>T (p.His719=) rs150161871 0.00001
NM_001184.4(ATR):c.2220C>G (p.Leu740=) rs1456465949 0.00001
NM_001184.4(ATR):c.2382T>C (p.Asp794=) rs1428773406 0.00001
NM_001184.4(ATR):c.2664A>G (p.Ala888=) rs767374235 0.00001
NM_001184.4(ATR):c.2691A>G (p.Leu897=) rs762515742 0.00001
NM_001184.4(ATR):c.2856T>A (p.Thr952=) rs1291323281 0.00001
NM_001184.4(ATR):c.2874C>T (p.Asp958=) rs758389323 0.00001
NM_001184.4(ATR):c.2958T>C (p.Asp986=) rs143919996 0.00001
NM_001184.4(ATR):c.2979G>A (p.Arg993=) rs376960547 0.00001
NM_001184.4(ATR):c.3330G>A (p.Pro1110=) rs771643731 0.00001
NM_001184.4(ATR):c.3690T>C (p.Thr1230=) rs776691983 0.00001
NM_001184.4(ATR):c.3765A>G (p.Leu1255=) rs758810736 0.00001
NM_001184.4(ATR):c.4221T>C (p.Tyr1407=) rs777058584 0.00001
NM_001184.4(ATR):c.4260C>T (p.Ala1420=) rs141720641 0.00001
NM_001184.4(ATR):c.4314A>G (p.Pro1438=) rs55806603 0.00001
NM_001184.4(ATR):c.4356A>G (p.Glu1452=) rs376297401 0.00001
NM_001184.4(ATR):c.4662A>G (p.Ala1554=) rs758763890 0.00001
NM_001184.4(ATR):c.4746C>T (p.Phe1582=) rs769375698 0.00001
NM_001184.4(ATR):c.4806G>A (p.Glu1602=) rs1559952973 0.00001
NM_001184.4(ATR):c.4860T>A (p.Thr1620=) rs972989914 0.00001
NM_001184.4(ATR):c.4941C>T (p.Arg1647=) rs186824993 0.00001
NM_001184.4(ATR):c.4950A>G (p.Ala1650=) rs149940145 0.00001
NM_001184.4(ATR):c.5133C>T (p.Ser1711=) rs368178207 0.00001
NM_001184.4(ATR):c.5211T>C (p.His1737=) rs370153176 0.00001
NM_001184.4(ATR):c.5292C>T (p.Ser1764=) rs745745176 0.00001
NM_001184.4(ATR):c.5484A>G (p.Ala1828=) rs765260141 0.00001
NM_001184.4(ATR):c.5562G>A (p.Leu1854=) rs2031699549 0.00001
NM_001184.4(ATR):c.6153C>T (p.Pro2051=) rs572825540 0.00001
NM_001184.4(ATR):c.6183A>G (p.Gln2061=) rs975197304 0.00001
NM_001184.4(ATR):c.624T>A (p.Thr208=) rs866939836 0.00001
NM_001184.4(ATR):c.6279A>G (p.Leu2093=) rs766366107 0.00001
NM_001184.4(ATR):c.6433T>C (p.Leu2145=) rs754739284 0.00001
NM_001184.4(ATR):c.6786A>G (p.Leu2262=) rs1035476600 0.00001
NM_001184.4(ATR):c.6903A>G (p.Glu2301=) rs779369662 0.00001
NM_001184.4(ATR):c.7005T>C (p.Asp2335=) rs773125056 0.00001
NM_001184.4(ATR):c.7077A>G (p.Glu2359=) rs1209398147 0.00001
NM_001184.4(ATR):c.7284C>T (p.Leu2428=) rs752303030 0.00001
NM_001184.4(ATR):c.744A>C (p.Ala248=) rs368117837 0.00001
NM_001184.4(ATR):c.7728A>T (p.Pro2576=) rs764165509 0.00001
NM_001184.4(ATR):c.7770C>T (p.Thr2590=) rs1408082351 0.00001
NM_001184.4(ATR):c.7800A>G (p.Gln2600=) rs746266532 0.00001
NM_001184.4(ATR):c.7899A>G (p.Leu2633=) rs147649584 0.00001
NM_001184.4(ATR):c.829T>C (p.Leu277=) rs775530116 0.00001
NM_001184.4(ATR):c.102A>G (p.Arg34=) rs778499519
NM_001184.4(ATR):c.1338A>G (p.Lys446=) rs1269628278
NM_001184.4(ATR):c.2094T>C (p.Asp698=) rs2108471856
NM_001184.4(ATR):c.2308C>T (p.Leu770=) rs765405340
NM_001184.4(ATR):c.2409A>G (p.Lys803=) rs766396565
NM_001184.4(ATR):c.2487G>A (p.Lys829=) rs1387074605
NM_001184.4(ATR):c.2709C>G (p.Val903=) rs2108462397
NM_001184.4(ATR):c.2892G>A (p.Val964=) rs755008980
NM_001184.4(ATR):c.3171+19A>G rs575077685
NM_001184.4(ATR):c.3567T>C (p.Pro1189=) rs149882558
NM_001184.4(ATR):c.4383-19_4383-16del rs768981812
NM_001184.4(ATR):c.4698C>G (p.Thr1566=) rs759372905
NM_001184.4(ATR):c.492G>T (p.Val164=) rs768453353
NM_001184.4(ATR):c.5421A>G (p.Leu1807=) rs773935656
NM_001184.4(ATR):c.5851C>A (p.Arg1951=) rs758234545
NM_001184.4(ATR):c.6438C>T (p.Ile2146=) rs2071206365
NM_001184.4(ATR):c.6813A>G (p.Pro2271=) rs774286189
NM_001184.4(ATR):c.7179A>G (p.Leu2393=) rs2071030538
NM_001184.4(ATR):c.7311T>C (p.His2437=) rs2108261468
NM_001184.4(ATR):c.7482T>C (p.Asp2494=) rs2108259913
NM_001184.4(ATR):c.7617A>G (p.Thr2539=) rs765583100
NM_001184.4(ATR):c.7662A>G (p.Leu2554=) rs2108249803
NM_001184.4(ATR):c.7791G>A (p.Gln2597=) rs2108242609
NM_001184.4(ATR):c.7863T>C (p.His2621=) rs2108242260

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