ClinVar Miner

List of variants in gene ATRX studied for obsolete Juberg-Marsidi syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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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.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val) rs1557140749 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr) rs782073135 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.134-4884_242+41del
NM_000489.6(ATRX):c.134A>T (p.Asp45Val) rs1557151500
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.6(ATRX):c.1466C>T (p.Thr489Ile)
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile) rs781957333
NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.3318T>A (p.Asp1106Glu) rs2148576296
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val) rs2148487205
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
NM_000489.6(ATRX):c.5137C>T (p.Pro1713Ser) rs2148272498
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala) rs2148245541
NM_000489.6(ATRX):c.5567G>A (p.Gly1856Asp)
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.5803A>G (p.Lys1935Glu) rs2148145177
NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) rs2066171841
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.6(ATRX):c.6504+5_6504+14del rs2064891953
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr) rs1339589345
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.796T>C (p.Tyr266His) rs2071441898
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu) rs2148637532
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) rs2071439399

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