ClinVar Miner

List of variants in gene ATRX studied for not specified

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_000489.6(ATRX):c.4557+33G>A rs5912716 0.01177
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro) rs145807475 0.00026
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.1606A>G (p.Met536Val) rs781865069 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val) rs375129029 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser) rs868995055 0.00006
NM_000489.6(ATRX):c.1077G>T (p.Leu359=) rs782504858 0.00005
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.1386T>C (p.Ala462=) rs367596462 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000489.6(ATRX):c.5697+13A>C rs782387510 0.00003
NM_000489.6(ATRX):c.6327-16A>G rs1457254023 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala) rs1557141862 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 0.00002
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln) rs1557142053 0.00001
NM_000489.6(ATRX):c.134-3T>A rs587780287 0.00001
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile) rs1057518436 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr) rs797045405 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2692G>C (p.Asp898His) rs781903868 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7072-8T>C rs782602387 0.00001
NM_000489.6(ATRX):c.88G>C (p.Glu30Gln) rs1427263828 0.00001
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.134-9C>T rs782350220
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.278A>G (p.Asp93Gly) rs1064796774
NM_000489.6(ATRX):c.3737-8C>T rs2070862607
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.6(ATRX):c.4253G>C (p.Ser1418Thr) rs2148451092
NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)
NM_000489.6(ATRX):c.4317+4A>G rs963331082
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4483A>T (p.Asn1495Tyr) rs782533736
NM_000489.6(ATRX):c.4810-19A>G rs1557106791
NM_000489.6(ATRX):c.5167delinsGAAGGC (p.Ile1723fs) rs587778083
NM_000489.6(ATRX):c.5271G>A (p.Glu1757=) rs141240580
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.5576A>G (p.Asn1859Ser) rs587778084
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=) rs1557041056
NM_000489.6(ATRX):c.7233C>T (p.Asn2411=) rs1557034927
NM_000489.6(ATRX):c.7396G>T (p.Gly2466Cys) rs782540364
NM_000489.6(ATRX):c.838T>C (p.Cys280Arg) rs797045408
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
NM_000489.6(ATRX):c.927_929dup (p.Tyr309_Glu310insAsp) rs1557142576
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly) rs1557142526

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