ClinVar Miner

List of variants in gene LMX1B studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.899G>A (p.Ser300Asn) rs866053996 0.00006
NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys) rs776839118 0.00004
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp) rs560914000 0.00004
NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser) rs771784052 0.00001
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) rs761796969 0.00001
NM_001174147.2(LMX1B):c.22G>A (p.Glu8Lys) rs756001518 0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 0.00001
NM_001174147.2(LMX1B):c.902G>A (p.Arg301His) rs773510108 0.00001
NM_001174147.2(LMX1B):c.1019C>T (p.Pro340Leu)
NM_001174147.2(LMX1B):c.1061C>T (p.Ser354Phe)
NM_001174147.2(LMX1B):c.1085A>T (p.Asp362Val)
NM_001174147.2(LMX1B):c.115C>G (p.Pro39Ala)
NM_001174147.2(LMX1B):c.184C>T (p.Pro62Ser)
NM_001174147.2(LMX1B):c.373A>G (p.Thr125Ala)
NM_001174147.2(LMX1B):c.451C>A (p.Arg151Ser)
NM_001174147.2(LMX1B):c.469G>A (p.Val157Met) rs767072869
NM_001174147.2(LMX1B):c.539G>A (p.Ser180Asn)
NM_001174147.2(LMX1B):c.683C>A (p.Thr228Lys)
NM_001174147.2(LMX1B):c.712_714del (p.Phe238del) rs1554728691
NM_001174147.2(LMX1B):c.725C>T (p.Ser242Leu) rs1002033502
NM_001174147.2(LMX1B):c.901C>T (p.Arg301Cys) rs376497496
NM_001174147.2(LMX1B):c.971A>G (p.Gln324Arg)

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