ClinVar Miner

List of variants studied for Reticular dysgenesis by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619 0.00049
NM_001625.4(AK2):c.631G>A (p.Asp211Asn) rs143825456 0.00015
NM_001625.4(AK2):c.615G>C (p.Gly205=) rs769651837 0.00004
NM_001625.4(AK2):c.340C>T (p.Leu114Phe) rs1485436107 0.00001
NM_001625.4(AK2):c.3G>A (p.Met1Ile)
NM_001625.4(AK2):c.400_401del (p.Leu134fs)

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