ClinVar Miner

List of variants in gene combination PREPL, SLC3A1 reported by Ambry Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg) rs138348037 0.00049
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val) rs150477781 0.00014
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe) rs200605467 0.00008
NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg) rs779401831 0.00003
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe) rs751603399 0.00003
NM_001171613.2(PREPL):c.1777C>G (p.Leu593Val) rs1558482256 0.00001
NM_000341.4(SLC3A1):c.1754A>G (p.Glu585Gly)
NM_000341.4(SLC3A1):c.1959G>T (p.Lys653Asn)
NM_000341.4(SLC3A1):c.1976A>G (p.Gln659Arg)
NM_000341.4(SLC3A1):c.2039T>C (p.Ile680Thr)
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His) rs574404474
NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro) rs537620020

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