ClinVar Miner

List of variants reported as uncertain significance for ataxia-telangiectasia-like disorder 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NC_000011.10:g.94493859A>G
NM_005590.4(MRE11):c.*570A>C rs397509346
NM_005590.4(MRE11):c.*630_*631TC[14] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[16] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[17] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[18] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[20] rs201800515
NM_005590.4(MRE11):c.*910dup rs886048753
NM_005590.4(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005591.3(MRE11):c.*1086A>G rs886048752
NM_005591.3(MRE11):c.*1304A>T rs562083257
NM_005591.3(MRE11):c.*1366G>A rs146641719
NM_005591.3(MRE11):c.*1554C>G rs886048751
NM_005591.3(MRE11):c.*1661A>C rs539061083
NM_005591.3(MRE11):c.*2106T>C rs886048750
NM_005591.3(MRE11):c.*2178A>C rs886048749
NM_005591.3(MRE11):c.*2258G>C rs886048748
NM_005591.3(MRE11):c.*2296A>G rs886048747
NM_005591.3(MRE11):c.*2320T>C rs886048746
NM_005591.3(MRE11):c.*2452C>T rs574670712
NM_005591.3(MRE11):c.*2703A>G rs766297244
NM_005591.3(MRE11):c.*313G>A rs886048758
NM_005591.3(MRE11):c.*447T>G rs886048757
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*660C>T rs591959
NM_005591.3(MRE11):c.*669C>G rs886048755
NM_005591.3(MRE11):c.*671C>T rs538218500
NM_005591.3(MRE11):c.*741A>G rs886048754
NM_005591.3(MRE11):c.*848A>G rs13447750
NM_005591.3(MRE11):c.-106+8C>T rs886048761
NM_005591.3(MRE11):c.-95A>G rs191426010
NM_005591.3(MRE11):c.1051C>T (p.Arg351Cys) rs757492041
NM_005591.3(MRE11):c.1097G>A (p.Arg366Gln) rs773968042
NM_005591.3(MRE11):c.1225+10T>G rs863224734
NM_005591.3(MRE11):c.1233G>A (p.Glu411=) rs748756180
NM_005591.3(MRE11):c.1238A>G (p.Asn413Ser) rs587782457
NM_005591.3(MRE11):c.1275A>C (p.Thr425=) rs749712745
NM_005591.3(MRE11):c.1404T>C (p.Asp468=) rs368144567
NM_005591.3(MRE11):c.1463G>A (p.Arg488His) rs145377856
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.1504C>T (p.Arg502Cys) rs186333183
NM_005591.3(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) rs144896235
NM_005591.3(MRE11):c.1724G>T (p.Gly575Val) rs376555330
NM_005591.3(MRE11):c.1758G>A (p.Ser586=) rs766372720
NM_005591.3(MRE11):c.1783+10G>C rs864622589
NM_005591.3(MRE11):c.1783+7A>G rs774520952
NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) rs145415033
NM_005591.3(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.3(MRE11):c.1853T>G (p.Met618Arg) rs748933763
NM_005591.3(MRE11):c.1858A>G (p.Ile620Val) rs144070976
NM_005591.3(MRE11):c.1868-4C>A rs768257868
NM_005591.3(MRE11):c.18A>T (p.Ala6=) rs758314845
NM_005591.3(MRE11):c.19C>G (p.Leu7Val) rs73517551
NM_005591.3(MRE11):c.20+8C>A rs766581183
NM_005591.3(MRE11):c.2076T>A (p.Asp692Glu) rs778093337
NM_005591.3(MRE11):c.2099C>G (p.Thr700Ser) rs374685908
NM_005591.3(MRE11):c.21-6_26del rs587780138
NM_005591.3(MRE11):c.218A>G (p.His73Arg) rs769313864
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.469A>G (p.Met157Val) rs147771140
NM_005591.3(MRE11):c.508C>A (p.Gln170Lys) rs587782030
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005591.3(MRE11):c.545-13A>G rs370306271
NM_005591.3(MRE11):c.585T>C (p.Asn195=) rs886048760
NM_005591.3(MRE11):c.640T>C (p.Phe214Leu) rs750929369
NM_005591.3(MRE11):c.777G>A (p.Gln259=) rs774144789
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.818C>G (p.Ser273Cys) rs143400546
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.848A>G (p.His283Arg) rs142727857
NM_005591.3(MRE11):c.914G>A (p.Arg305Gln) rs752483206
NM_005591.3(MRE11):c.940C>T (p.Leu314=) rs368362407
NM_005591.3(MRE11):c.981A>G (p.Lys327=) rs587782569
NM_005591.4(MRE11):c.*1082T>C
NM_005591.4(MRE11):c.*1174C>T
NM_005591.4(MRE11):c.*1704G>A
NM_005591.4(MRE11):c.*1776C>T rs104895005
NM_005591.4(MRE11):c.*1900C>T
NM_005591.4(MRE11):c.*1933G>T rs104895004
NM_005591.4(MRE11):c.*193T>C
NM_005591.4(MRE11):c.*2170A>T
NM_005591.4(MRE11):c.*2324G>T
NM_005591.4(MRE11):c.*2531A>T
NM_005591.4(MRE11):c.*2658A>G
NM_005591.4(MRE11):c.*2700C>T
NM_005591.4(MRE11):c.*2704G>C
NM_005591.4(MRE11):c.*429A>G
NM_005591.4(MRE11):c.*593A>C
NM_005591.4(MRE11):c.*656T>C rs104895009
NM_005591.4(MRE11):c.*658T>C
NM_005591.4(MRE11):c.*672G>A
NM_005591.4(MRE11):c.*740G>A
NM_005591.4(MRE11):c.*760G>A
NM_005591.4(MRE11):c.*877A>G
NM_005591.4(MRE11):c.*973A>G
NM_005591.4(MRE11):c.*974C>G
NM_005591.4(MRE11):c.-106+11A>G
NM_005591.4(MRE11):c.-42G>A
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val)
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu)
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.4(MRE11):c.154-11C>G

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