ClinVar Miner

List of variants in gene ATRX reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000489.6(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598 0.00009
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.2753C>T (p.Thr918Ile) rs782394785 0.00003
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.2775T>C (p.Ser925=) rs139376742 0.00001
NM_000489.6(ATRX):c.3030A>G (p.Glu1010=) rs781816426 0.00001
NM_000489.6(ATRX):c.3663C>T (p.Ser1221=) rs1214349616 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4863G>A (p.Thr1621=) rs782108010 0.00001
NM_000489.6(ATRX):c.594+8A>G rs1557145476 0.00001
NM_000489.6(ATRX):c.243-8dup rs1569540561
NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=) rs2071246611
NM_000489.6(ATRX):c.7029A>G (p.Thr2343=) rs1557041353

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