ClinVar Miner

List of variants reported as benign for alpha-thalassemia-related diseases

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000489.5(ATRX):c.1032C>T (p.Ser344=)
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1047C>G (p.Pro349=)
NM_000489.5(ATRX):c.1245C>T (p.Ser415=)
NM_000489.5(ATRX):c.1257G>A (p.Ala419=)
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val)
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1446A>C (p.Glu482Asp)
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1467C>T (p.Thr489=) rs199929884
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.189+7A>G
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg)
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2224A>G (p.Ser742Gly)
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2423G>A (p.Arg808Gln)
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser)
NM_000489.5(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2531C>A (p.Thr844Lys)
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2697G>A (p.Thr899=)
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2923G>A (p.Asp975Asn)
NM_000489.5(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.5(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3306G>A (p.Arg1102=)
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val)
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.3978A>G (p.Ser1326=)
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4710T>C (p.Phe1570=)
NM_000489.5(ATRX):c.5073A>G (p.Gln1691=)
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=) rs149960511
NM_000489.5(ATRX):c.5493C>T (p.His1831=)
NM_000489.5(ATRX):c.5566+5A>C
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.5698-7del
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5957-9C>G
NM_000489.5(ATRX):c.6024T>C (p.Asp2008=)
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.6873A>G (p.Ile2291Met)
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.711T>C (p.Asn237=)
NM_000489.5(ATRX):c.7254C>T (p.Tyr2418=)
NM_000489.5(ATRX):c.7256A>G (p.Asn2419Ser)
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) rs782391479

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