ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP
NM_000051.3(ATM):c.5762_5763insNG_009830.1:g.91138_91274 rs774925473
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.7251_7253dup (p.Lys2418_Arg2419insLys) rs796051857
NM_000051.3(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7279_7284del (p.Leu2427_Arg2428del) rs796051856
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) rs1450394308
NM_000051.3(ATM):c.7967T>C (p.Leu2656Pro) rs121434218
NM_000051.3(ATM):c.7988_7991del (p.Val2663Alafs) rs587776550
NM_000051.3(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8578_8580delTCT (p.Ser2860del) rs786203976
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219

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