ClinVar Miner

List of variants in gene LMF1 studied for Lipase deficiency, combined

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp) rs115416993 0.00797
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00393
NM_022773.4(LMF1):c.514+2452G>A rs559176411 0.00335
NM_022773.4(LMF1):c.384G>C (p.Leu128Phe) rs115313199 0.00313
NM_022773.4(LMF1):c.514+254G>A rs72759474 0.00181
NM_022773.4(LMF1):c.1608G>T (p.Val536=) rs201012186 0.00149
NM_022773.4(LMF1):c.1092G>A (p.Arg364=) rs111829625 0.00106
NM_022773.4(LMF1):c.718T>C (p.Phe240Leu) rs34295987 0.00084
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr) rs181731943 0.00046
NM_022773.4(LMF1):c.1138G>A (p.Val380Met) rs201734228 0.00025
NM_022773.4(LMF1):c.1530-1373C>G rs1000355362 0.00025
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_022773.4(LMF1):c.901G>A (p.Val301Ile) rs183552168 0.00009
NM_022773.4(LMF1):c.602C>T (p.Pro201Leu) rs565159724 0.00004
NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys) rs1380800485 0.00003
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00003
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_022773.4(LMF1):c.1318G>A (p.Glu440Lys) rs778629426 0.00002
NM_022773.4(LMF1):c.1406C>T (p.Ala469Val) rs574656841 0.00002
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_022773.4(LMF1):c.410C>T (p.Ser137Leu) rs549008037 0.00001
NM_022773.4(LMF1):c.479C>T (p.Ser160Phe) rs956451977 0.00001
NM_022773.4(LMF1):c.697C>T (p.Arg233Ter) rs199953320 0.00001
NM_022773.4(LMF1):c.1039C>G (p.Gln347Glu) rs2069779467
NM_022773.4(LMF1):c.1079-2A>C rs769211813
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile) rs186694298
NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter) rs121909397
NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn) rs377384616
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser) rs376658034
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870
NM_022773.4(LMF1):c.683G>T (p.Gly228Val) rs754772870

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