ClinVar Miner

List of variants reported as pathogenic for Reticular dysgenesis

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645 0.00003
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206 0.00001
NC_000001.10:g.(?_33473829)_(33478866_?)del
NC_000001.10:g.(?_33490023)_(33502429_?)del
NG_016269.1:g.(5157_17324)_(17451_20188)del
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001625.4(AK2):c.331-1G>A rs1192619329
NM_001625.4(AK2):c.374_375del (p.Val125fs)
NM_001625.4(AK2):c.409C>T (p.Arg137Ter) rs1476680673
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001625.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_001625.4(AK2):c.523del (p.Arg175fs) rs1553150995
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter) rs2124279569
NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_001625.4(AK2):c.84dup (p.Gly29fs) rs1640610158

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