ClinVar Miner

List of variants in gene LMF1 reported as pathogenic for not provided

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_022773.4(LMF1):c.1323del (p.Phe441fs) rs760536168 0.00004
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00004
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_022773.4(LMF1):c.244_245del (p.Arg82fs) rs759547196 0.00001
NM_022773.4(LMF1):c.359C>G (p.Ser120Ter) rs768161861 0.00001
NC_000016.9:g.(?_1004337)_(1004686_?)del
NC_000016.9:g.(?_960911)_(961099_?)del
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658
NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter) rs121909397
NM_022773.4(LMF1):c.264_265del (p.Arg88fs)
NM_022773.4(LMF1):c.291C>G (p.Tyr97Ter) rs1237709439
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_022773.4(LMF1):c.510_513del (p.Phe171fs)
NM_022773.4(LMF1):c.685dup (p.Asp229fs)
NM_022773.4(LMF1):c.789_796dup (p.Glu266fs)
NM_022773.4(LMF1):c.862del (p.Cys288fs)
NM_022773.4(LMF1):c.938G>A (p.Trp313Ter)
NM_022773.4(LMF1):c.946_947del (p.Met316fs)

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