ClinVar Miner

List of variants in gene ATRX reported as uncertain significance for Inborn genetic diseases

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly) rs782778928 0.00004
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln) rs367700285 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser) rs782399326 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu) rs149195735 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys) rs782253905 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.139A>G (p.Ile47Val) rs782584831 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.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile) rs1557124033 0.00001
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu) rs1557096992 0.00001
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser) rs782151425 0.00001
NM_000489.6(ATRX):c.1162A>G (p.Lys388Glu)
NM_000489.6(ATRX):c.1183T>G (p.Phe395Val) rs1569539366
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1286C>A (p.Thr429Asn)
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1441G>A (p.Glu481Lys)
NM_000489.6(ATRX):c.1694T>C (p.Ile565Thr) rs1557140924
NM_000489.6(ATRX):c.1718G>A (p.Gly573Asp)
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.6(ATRX):c.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2599A>C (p.Asn867His)
NM_000489.6(ATRX):c.2758G>T (p.Gly920Cys)
NM_000489.6(ATRX):c.2810G>A (p.Arg937Lys) rs2071268459
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.370+5T>C rs1557149836
NM_000489.6(ATRX):c.3851T>G (p.Leu1284Arg)
NM_000489.6(ATRX):c.3883G>A (p.Glu1295Lys)
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4557+5C>G
NM_000489.6(ATRX):c.497A>G (p.His166Arg)
NM_000489.6(ATRX):c.5380A>G (p.Met1794Val)
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.5832T>A (p.Ser1944Arg) rs2066591709
NM_000489.6(ATRX):c.583_585del (p.Leu195del)
NM_000489.6(ATRX):c.5863A>G (p.Ile1955Val)
NM_000489.6(ATRX):c.6409G>A (p.Ala2137Thr) rs1557060350
NM_000489.6(ATRX):c.6472A>G (p.Lys2158Glu)
NM_000489.6(ATRX):c.662+3A>G
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.7157G>A (p.Arg2386Gln)
NM_000489.6(ATRX):c.793T>C (p.Cys265Arg) rs2071442345

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