ClinVar Miner

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

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7928-2A>G rs864622610
NM_000051.3(ATM):c.8010+1delG rs876659350
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8152-2A>G rs777602049
NM_000051.3(ATM):c.8269-1G>C rs1565557607
NM_000051.3(ATM):c.8419-1G>C rs1555137920
NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) rs587782202
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219

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