ClinVar Miner

List of variants in gene ATRX reported as not provided

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro) rs145807475 0.00026
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4317+1G>A rs2148449882
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4557+2T>G rs2148435131
NM_000489.6(ATRX):c.4700-1G>C rs2148351116
NM_000489.6(ATRX):c.4809+2T>G rs2148349096
NM_000489.6(ATRX):c.5167delinsGAAGGC (p.Ile1723fs) rs587778083
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.5576A>G (p.Asn1859Ser) rs587778084
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.663-2A>G rs2148640625
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105

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