ClinVar Miner

List of variants reported as pathogenic for Combined immunodeficiency due to moesin deficiency

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002444.3(MSN):c.1056del (p.Lys352fs)	rs2147518591
NM_002444.3(MSN):c.1657C>T (p.Arg553Ter)	rs1057519075
NM_002444.3(MSN):c.511C>T (p.Arg171Trp)	rs1057519074

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