ClinVar Miner

List of variants reported as uncertain significance for alpha thalassemia-X-linked intellectual disability syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NM_000489.4(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.4(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.4(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.4(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.4(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.4(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.4(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.4(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.4(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.4(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.4(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.4(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.4(ATRX):c.4347_4358delAGAAGAGGAGGA (p.Glu1461_Glu1464del) rs1557117424
NM_000489.4(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.4(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.4(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.4(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del)
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg)
NM_000489.5(ATRX):c.167T>A (p.Met56Lys)
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val)
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly)
NM_000489.5(ATRX):c.2247_2249del (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu)
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn)
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile)
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val)
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln)
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val)
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile)
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile)
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4359_4361del (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys)
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5974_5976delTCT (p.Ser1992del)
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile)
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr)
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu)
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.829G>C (p.Val277Leu)

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