ClinVar Miner

List of variants reported as uncertain significance for Lipase deficiency, combined

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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_022773.4(LMF1):c.1406C>T (p.Ala469Val) rs574656841 0.00002
NM_022773.4(LMF1):c.1039C>G (p.Gln347Glu) rs2069779467
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys)
NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn)
NM_022773.4(LMF1):c.1530-1373C>G
NM_022773.4(LMF1):c.479C>T (p.Ser160Phe)
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)
NM_022773.4(LMF1):c.514+2452G>A
NM_022773.4(LMF1):c.57G>C (p.Lys19Asn)
NM_022773.4(LMF1):c.602C>T (p.Pro201Leu)
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870
NM_022773.4(LMF1):c.683G>T (p.Gly228Val)
NM_022773.4(LMF1):c.718T>C (p.Phe240Leu)
NM_022773.4(LMF1):c.901G>A (p.Val301Ile)

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