ClinVar Miner

List of variants studied for Predisposition to invasive fungal disease due to CARD9 deficiency by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_052813.5(CARD9):c.188_191dup (p.Leu65fs) rs768308018 0.00001
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser) rs398122362 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro) rs149712114
NM_052813.5(CARD9):c.301C>T (p.Arg101Cys) rs398122364
NM_052813.5(CARD9):c.472C>T (p.Gln158Ter) rs1342330215
NM_052813.5(CARD9):c.68C>A (p.Ser23Ter) rs775267971
NM_052813.5(CARD9):c.820dup (p.Asp274fs) rs753050033
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter) rs121918338

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