ClinVar Miner

List of variants reported as uncertain significance for reticular dysgenesis by Baylor Genetics

Included ClinVar conditions (1):

Reticular dysgenesis

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)	rs61750965	0.00379
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	rs138577419	0.00133
NM_001625.4(AK2):c.202A>G (p.Met68Val)	rs548856916	0.00001

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