ClinVar Miner

List of variants in gene LMX1B reported by PreventionGenetics, part of Exact Sciences

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_001174147.2(LMX1B):c.559+20G>A rs76196383 0.02910
NM_001174147.2(LMX1B):c.930G>A (p.Thr310=) rs112171815 0.01716
NM_001174147.2(LMX1B):c.560-19C>T rs112173596 0.00734
NM_001174147.2(LMX1B):c.886+28G>A rs150656317 0.00426
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001174147.2(LMX1B):c.886+8G>A rs774459476 0.00012
NM_001174147.2(LMX1B):c.139+19C>T rs371424668 0.00006
NM_001174147.2(LMX1B):c.429C>T (p.Cys143=) rs886038509 0.00003
NM_001174147.2(LMX1B):c.1151G>A (p.Arg384His) rs143906016 0.00002
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_001174147.2(LMX1B):c.902G>A (p.Arg301His) rs773510108 0.00001
NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=) rs10115304
NM_001174147.2(LMX1B):c.140-13C>T
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
NM_001174147.2(LMX1B):c.217G>C (p.Glu73Gln)
NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)
NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)
NM_001174147.2(LMX1B):c.255G>A (p.Ala85=) rs763085114
NM_001174147.2(LMX1B):c.327-1G>A
NM_001174147.2(LMX1B):c.327-5C>T
NM_001174147.2(LMX1B):c.327-5_327-3dup rs376229612
NM_001174147.2(LMX1B):c.340A>T (p.Lys114Ter)
NM_001174147.2(LMX1B):c.392C>T (p.Ala131Val)
NM_001174147.2(LMX1B):c.534C>T (p.Ser178=)
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
NM_001174147.2(LMX1B):c.58G>A (p.Asp20Asn)
NM_001174147.2(LMX1B):c.597_598dup (p.Lys200fs)
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
NM_001174147.2(LMX1B):c.668G>C (p.Arg223Pro)
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.741+8del rs779132103
NM_001174147.2(LMX1B):c.844del (p.Gln282fs)
NM_001174147.2(LMX1B):c.886+17G>T
NM_001174147.2(LMX1B):c.886+38G>A
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881
NM_001174147.2(LMX1B):c.948G>A (p.Gln316=) rs779948246
NM_001174147.2(LMX1B):c.982G>A (p.Gly328Ser)
NM_001174147.2(LMX1B):c.990C>T (p.Ser330=)

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