ClinVar Miner

List of variants studied for MHC class II deficiency by GenomeConnect - Invitae Patient Insights Network

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512

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