ClinVar Miner

List of variants in gene ATM reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 9
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HGVS dbSNP
NM_000051.3(ATM):c.1379C>T (p.Thr460Met) rs587781841
NM_000051.3(ATM):c.1436A>G (p.Asp479Gly) rs1555070958
NM_000051.3(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_001351834.2(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817

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