ClinVar Miner

List of variants in gene ATRX reported as uncertain significance for not specified

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.1606A>G (p.Met536Val) rs781865069 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser) rs868995055 0.00006
NM_000489.6(ATRX):c.1386T>C (p.Ala462=) rs367596462 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala) rs1557141862 0.00002
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln) rs1557142053 0.00001
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile) rs1057518436 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr) rs797045405 0.00001
NM_000489.6(ATRX):c.2692G>C (p.Asp898His) rs781903868 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.88G>C (p.Glu30Gln) rs1427263828 0.00001
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.278A>G (p.Asp93Gly) rs1064796774
NM_000489.6(ATRX):c.3737-8C>T rs2070862607
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.6(ATRX):c.4253G>C (p.Ser1418Thr) rs2148451092
NM_000489.6(ATRX):c.4317+4A>G rs963331082
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.7396G>T (p.Gly2466Cys) rs782540364
NM_000489.6(ATRX):c.838T>C (p.Cys280Arg) rs797045408
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
NM_000489.6(ATRX):c.927_929dup (p.Tyr309_Glu310insAsp) rs1557142576
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly) rs1557142526

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