ClinVar Miner

List of variants studied for Ataxia-telangiectasia-like disorder by Invitae

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Total variants: 93
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HGVS dbSNP
NC_000011.9:g.(?_94194092)_(94212937_?)dup
NM_005591.3(MRE11):c.1004T>C (p.Phe335Ser)
NM_005591.3(MRE11):c.1006T>A (p.Cys336Ser)
NM_005591.3(MRE11):c.1047_1048del (p.Glu350fs)
NM_005591.3(MRE11):c.1051C>T (p.Arg351Cys) rs757492041
NM_005591.3(MRE11):c.1052G>A (p.Arg351His) rs587780133
NM_005591.3(MRE11):c.1058G>A (p.Gly353Asp)
NM_005591.3(MRE11):c.107C>T (p.Thr36Met) rs768676557
NM_005591.3(MRE11):c.1082C>G (p.Pro361Arg)
NM_005591.3(MRE11):c.1087G>A (p.Val363Ile)
NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.3(MRE11):c.112G>T (p.Val38Leu) rs786202896
NM_005591.3(MRE11):c.1139G>A (p.Arg380His) rs587781646
NM_005591.3(MRE11):c.1162C>T (p.Arg388Trp) rs375223186
NM_005591.3(MRE11):c.1163G>A (p.Arg388Gln) rs587780134
NM_005591.3(MRE11):c.1163G>C (p.Arg388Pro)
NM_005591.3(MRE11):c.1183A>G (p.Ile395Val) rs775670175
NM_005591.3(MRE11):c.1202A>G (p.His401Arg) rs146779325
NM_005591.3(MRE11):c.1226-6T>G
NM_005591.3(MRE11):c.1226_1228delGAG rs587782089
NM_005591.3(MRE11):c.1243G>C (p.Gly415Arg)
NM_005591.3(MRE11):c.1286T>C (p.Val429Ala) rs141293060
NM_005591.3(MRE11):c.1318G>A (p.Ala440Thr) rs773469981
NM_005591.3(MRE11):c.1327-2A>G rs878854776
NM_005591.3(MRE11):c.1418T>C (p.Leu473Ser) rs771843497
NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys) rs375261439
NM_005591.3(MRE11):c.1463G>A (p.Arg488His) rs145377856
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.3(MRE11):c.1496A>G (p.Glu499Gly) rs774145193
NM_005591.3(MRE11):c.1501-8T>A
NM_005591.3(MRE11):c.1504C>T (p.Arg502Cys) rs186333183
NM_005591.3(MRE11):c.1507C>T (p.Arg503Cys) rs761458720
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.153+6T>C
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.3(MRE11):c.1658A>C (p.Gln553Pro)
NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) rs144896235
NM_005591.3(MRE11):c.1699A>G (p.Asn567Asp) rs778585671
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.3(MRE11):c.1726C>G (p.Arg576Gly) rs774277300
NM_005591.3(MRE11):c.1731A>C (p.Arg577Ser)
NM_005591.3(MRE11):c.1757C>T (p.Ser586Leu) rs753717905
NM_005591.3(MRE11):c.1800G>T (p.Glu600Asp) rs1028566396
NM_005591.3(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.3(MRE11):c.1822T>G (p.Ser608Ala) rs770184763
NM_005591.3(MRE11):c.1834G>A (p.Val612Met)
NM_005591.3(MRE11):c.1834G>C (p.Val612Leu) rs371719012
NM_005591.3(MRE11):c.1898G>A (p.Arg633Gln) rs745614941
NM_005591.3(MRE11):c.1913A>T (p.Lys638Met)
NM_005591.3(MRE11):c.1972A>G (p.Thr658Ala) rs587782756
NM_005591.3(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005591.3(MRE11):c.2054A>G (p.Asp685Gly) rs554399982
NM_005591.3(MRE11):c.2065A>C (p.Ser689Arg)
NM_005591.3(MRE11):c.2070+2T>A rs786202801
NM_005591.3(MRE11):c.2070+5del rs587782048
NM_005591.3(MRE11):c.2076T>A (p.Asp692Glu) rs778093337
NM_005591.3(MRE11):c.2086C>T (p.Pro696Ser) rs876659349
NM_005591.3(MRE11):c.2113A>G (p.Arg705Gly) rs755681342
NM_005591.3(MRE11):c.2117A>G (p.Asn706Ser)
NM_005591.3(MRE11):c.247T>C (p.Cys83Arg)
NM_005591.3(MRE11):c.256G>A (p.Asp86Asn) rs763902512
NM_005591.3(MRE11):c.259C>T (p.Arg87Trp) rs758112386
NM_005591.3(MRE11):c.260G>A (p.Arg87Gln) rs752585966
NM_005591.3(MRE11):c.274G>A (p.Glu92Lys) rs587780139
NM_005591.3(MRE11):c.28G>A (p.Glu10Lys) rs756308200
NM_005591.3(MRE11):c.305G>T (p.Gly102Val) rs199736271
NM_005591.3(MRE11):c.311G>C (p.Ser104Thr) rs587780140
NM_005591.3(MRE11):c.314A>C (p.Lys105Thr) rs1025272236
NM_005591.3(MRE11):c.323G>C (p.Trp108Ser) rs1216591891
NM_005591.3(MRE11):c.388G>A (p.Asp130Asn)
NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) rs368403414
NM_005591.3(MRE11):c.423G>A (p.Leu141=) rs199540078
NM_005591.3(MRE11):c.469A>G (p.Met157Val) rs147771140
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005591.3(MRE11):c.530C>T (p.Ala177Val) rs773766504
NM_005591.3(MRE11):c.534A>G (p.Leu178=) rs374635285
NM_005591.3(MRE11):c.587A>G (p.Lys196Arg) rs376895161
NM_005591.3(MRE11):c.62T>C (p.Ile21Thr)
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.664A>T (p.Lys222Ter)
NM_005591.3(MRE11):c.689C>T (p.Pro230Leu) rs185439615
NM_005591.3(MRE11):c.715G>C (p.Asp239His)
NM_005591.3(MRE11):c.718C>G (p.Leu240Val) rs786203969
NM_005591.3(MRE11):c.740A>G (p.His247Arg) rs876659322
NM_005591.3(MRE11):c.818C>G (p.Ser273Cys) rs143400546
NM_005591.3(MRE11):c.845+4A>C
NM_005591.3(MRE11):c.848A>G (p.His283Arg) rs142727857
NM_005591.3(MRE11):c.862C>T (p.Arg288Cys) rs753958669
NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) rs372000848
NM_005591.3(MRE11):c.970G>C (p.Asp324His)
NM_005591.3(MRE11):c.971A>G (p.Asp324Gly) rs763563427
NM_005591.3(MRE11):c.986C>A (p.Thr329Asn) rs370645480

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