List of variants studied for immune system disorder by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000051.4(ATM):c.2152dup (p.Cys718fs)	rs2135392702
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)	rs2135551484
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)	rs587781823
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)	rs864622326

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