ClinVar Miner

List of variants in gene ATRX reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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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.4239A>G (p.Glu1413=) rs141974120 0.00129
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.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
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.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000489.6(ATRX):c.4810-3T>C rs370596323 0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser) rs886044864 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.5884T>A (p.Ser1962Thr) rs398123426 0.00004
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys) rs782058125 0.00002
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln) rs782508808 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.3421A>C (p.Ser1141Arg) rs1178889640 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.134-2A>G rs398123420
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.6(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.6(ATRX):c.189+1G>A rs398123422
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn) rs886044896
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer) rs398123424
NM_000489.6(ATRX):c.4720T>C (p.Cys1574Arg) rs797044659
NM_000489.6(ATRX):c.4938A>G (p.Lys1646=) rs797044664
NM_000489.6(ATRX):c.5161G>A (p.Gly1721Ser) rs727503816
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5693A>G (p.Asn1898Ser) rs797044686
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=) rs797044495
NM_000489.6(ATRX):c.6777C>G (p.Asp2259Glu) rs398123427
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7200+9del rs781816667
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7394del (p.Gly2465fs) rs398123428
NM_000489.6(ATRX):c.830T>G (p.Val277Gly) rs797044793

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