ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 48
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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.3848A>G (p.Asn1283Ser) rs201588422 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.1439C>T (p.Thr480Ile) rs782751824 0.00001
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.3701T>G (p.Val1234Gly) rs782816523 0.00001
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp) rs1557118764 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.134A>T (p.Asp45Val) rs1557151500
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.243-8dup rs1569540561
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=) rs2071246611
NM_000489.6(ATRX):c.3931C>T (p.Pro1311Ser) rs1603148139
NM_000489.6(ATRX):c.3944-2A>G rs2070047352
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.5452A>G (p.Lys1818Glu)
NM_000489.6(ATRX):c.5553A>C (p.Leu1851Phe) rs1569531208
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)
NM_000489.6(ATRX):c.5761A>G (p.Ser1921Gly)
NM_000489.6(ATRX):c.5782A>G (p.Thr1928Ala)
NM_000489.6(ATRX):c.5966C>T (p.Thr1989Ile) rs1557082422
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6401T>A (p.Ile2134Lys) rs1602536751
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=) rs2064850147
NM_000489.6(ATRX):c.7029A>G (p.Thr2343=) rs1557041353
NM_000489.6(ATRX):c.7201-3_7201-2del rs2062763812
NM_000489.6(ATRX):c.7309A>C (p.Met2437Leu)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7371_7393del (p.Gly2458fs)
NM_000489.6(ATRX):c.7396G>A (p.Gly2466Ser)

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