List of variants reported as pathogenic by Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_000874.5(IFNAR2):c.555_559del (p.Ile185fs)	rs1312285586	0.00006
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	rs778405030	0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	rs757082154	0.00001
NC_000017.11:g.30660608_31159168inv
NC_000017.11:g.[31162374_31182520del;31182521_31250996inv;31250997_31266506del]
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)	rs80359701
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)	rs587782593
NM_000612.6(IGF2):c.-6-2A>G
NM_000874.5(IFNAR2):c.236del (p.Asp78_Leu79insTer)	rs1310889473
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	rs746115846
NM_001270508.2(TNFAIP3):c.1727dup (p.His577fs)	rs2114504458
NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)	rs1732397227
NM_015426.5(POC1A):c.1048del (p.Gln350fs)	rs763709592
NM_015426.5(POC1A):c.884del (p.Val295fs)	rs1703818635

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