List of variants reported as likely benign by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)	rs139221232	0.00030
NM_001228.5(CASP8):c.-26-8094G>C	rs755371396	0.00001
NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly)	rs891747847	0.00001
NM_001770.6(CD19):c.47T>C (p.Met16Thr)	rs745681190	0.00001
NM_206937.2(LIG4):c.2299A>G (p.Ile767Val)	rs758471169	0.00001
NM_000265.7(NCF1):c.923C>T (p.Ala308Val)	rs13739
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)	rs1160029790
NM_001228.5(CASP8):c.-26-8138T>A	rs764133648
NM_001228.5(CASP8):c.-26-8157C>A	rs201548238
NM_001364905.1(LRBA):c.2521G>A (p.Ala841Thr)	rs755188769
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met)	rs112245411

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