ClinVar Miner

List of variants in gene ATM reported by GeneReviews

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
c.2249ins9
c.2639del200nt
c.3802delG
c.7271T>G
c.8313-2A>C

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