ClinVar Miner

List of variants in gene ATRX reported as uncertain significance for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP
NM_000489.3(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.4(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.4(ATRX):c.1694T>C (p.Ile565Thr) rs1557140924
NM_000489.4(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.4(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.4(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.4(ATRX):c.6409G>A (p.Ala2137Thr) rs1557060350
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.5540A>T (p.Tyr1847Phe) rs1057521987

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