ClinVar Miner

List of variants in gene ATRX reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000489.6(ATRX):c.3943+143= rs5912227 0.49062
NM_000489.6(ATRX):c.595-36= rs35268552 0.48850
NM_000489.6(ATRX):c.6110+226= rs3027544 0.46359
NM_000489.6(ATRX):c.6218-297A>G rs3027539 0.05879
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.4214+236C>T rs34060420 0.05131
NM_000489.6(ATRX):c.3944-266C>T rs112759632 0.03044
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_000489.6(ATRX):c.4317+301C>T rs148638497 0.02523
NM_000489.6(ATRX):c.6975+146C>T rs45509291 0.02014
NM_000489.6(ATRX):c.6111-146A>G rs45503998 0.01689
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.6849+31G>T rs184484318 0.00273
NM_000489.6(ATRX):c.134-304G>A rs782268751 0.00178
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.6504+36T>C rs112091492 0.00122
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_000489.6(ATRX):c.6850-31T>A rs370958666 0.00052
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
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.6218-34A>C rs781888261 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.595-43T>C rs782072325 0.00008
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.3736+61_3736+62del rs45577534
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4810-37G>T rs781964325
NM_000489.6(ATRX):c.484+57A>C rs782659412
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5787-24G>T rs45608236
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.663-55T>A rs45565042
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787

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