List of variants reported as likely pathogenic by UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)	rs772330879	0.00001
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	rs2146715075
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)	rs2132884703
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)	rs1674554041
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	rs121912741
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	rs2142314789

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