ClinVar Miner

List of variants in gene ATRX reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1273A>C (p.Lys425Gln) rs782508808
NM_000489.5(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.5(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.5(ATRX):c.1804G>A (p.Gly602Ser) rs886044864
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.2629G>A (p.Asp877Asn) rs886044896
NM_000489.5(ATRX):c.2782G>C (p.Glu928Gln) rs797044792
NM_000489.5(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.5(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3421A>C (p.Ser1141Arg) rs1178889640
NM_000489.5(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4720T>C (p.Cys1574Arg) rs797044659
NM_000489.5(ATRX):c.4810-3T>C
NM_000489.5(ATRX):c.4938A>G (p.Lys1646=) rs797044664
NM_000489.5(ATRX):c.5161G>A (p.Gly1721Ser) rs727503816
NM_000489.5(ATRX):c.5693A>G (p.Asn1898Ser) rs797044686
NM_000489.5(ATRX):c.5787-20G>T rs185359850
NM_000489.5(ATRX):c.5884T>A (p.Ser1962Thr) rs398123426
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6753C>T (p.Tyr2251=) rs797044495
NM_000489.5(ATRX):c.6777C>G (p.Asp2259Glu) rs398123427
NM_000489.5(ATRX):c.7200+9del
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.830T>G (p.Val277Gly) rs797044793
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.926A>G (p.Tyr309Cys) rs782058125

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