List of variants reported as likely pathogenic for Hyper-IgM syndrome type 2 by Invitae

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln)	rs886923939	0.00002
NM_020661.4(AICDA):c.544-2A>G	rs772388034	0.00001
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.8+1G>C

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