List of variants reported as likely pathogenic for hyper-IgM syndrome type 1 by Invitae

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys)	rs2148552406
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)	rs886039326
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)	rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys)	rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)	rs1057521128

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