ClinVar Miner

List of variants reported as likely benign for alpha thalassemia-X-linked intellectual disability syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) rs150484080
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1606A>G (p.Met536Val) rs781865069
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.243-4A>T rs782131289
NM_000489.5(ATRX):c.2457A>G (p.Ser819=) rs1051441832
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2880C>T (p.Gly960=) rs782796279
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.3030A>G (p.Glu1010=) rs781816426
NM_000489.5(ATRX):c.3042T>C (p.Asp1014=) rs140476563
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.5(ATRX):c.3462A>G (p.Ser1154=) rs782121260
NM_000489.5(ATRX):c.3537C>T (p.Val1179=) rs782800250
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.3663C>T (p.Ser1221=) rs1214349616
NM_000489.5(ATRX):c.3786T>C (p.Asp1262=) rs782113542
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4203G>A (p.Arg1401=) rs1399734659
NM_000489.5(ATRX):c.4329G>A (p.Glu1443=) rs782044671
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4368G>A (p.Glu1456=) rs1557117399
NM_000489.5(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880
NM_000489.5(ATRX):c.4863G>A (p.Thr1621=) rs782108010
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5484T>C (p.Pro1828=) rs782803109
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.567C>T (p.His189=) rs1603233545
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6036G>A (p.Glu2012=) rs376679217
NM_000489.5(ATRX):c.6505-8T>C rs782548527
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.7044A>G (p.Gln2348=) rs375935735
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.820T>C (p.Leu274=) rs146012355
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928

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