ClinVar Miner

List of variants studied for Lipase deficiency, combined by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_022773.4(LMF1):c.384G>C (p.Leu128Phe) rs115313199 0.00337
NM_022773.4(LMF1):c.95C>T (p.Ala32Val) rs199831082 0.00194
NM_022773.4(LMF1):c.1608G>T (p.Val536=) rs201012186 0.00148
NM_022773.4(LMF1):c.1092G>A (p.Arg364=) rs111829625 0.00108
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870

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