ClinVar Miner

List of variants studied for Pulmonary alveolar proteinosis with hypogammaglobulinemia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016816.4(OAS1):c.415C>T (p.Leu139Phe) rs142314177 0.00023
NM_016816.4(OAS1):c.523G>A (p.Glu175Lys) rs148820389 0.00006
NM_016816.4(OAS1):c.227C>T (p.Ala76Val) rs1555223118
NM_016816.4(OAS1):c.326G>A (p.Cys109Tyr) rs1555223154
NM_016816.4(OAS1):c.362T>G (p.Val121Gly) rs2136295939
NM_016816.4(OAS1):c.592C>G (p.Leu198Val) rs1555223390
NM_016816.4(OAS1):c.609del (p.Lys204fs)
NM_016816.4(OAS1):c.654+3A>G

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