ClinVar Miner

List of variants in gene LMX1B reported as likely benign for Nail-patella syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.*1106_*1107del rs201556524 0.02138
NM_001174147.2(LMX1B):c.*38G>A rs201442685 0.00080
NM_001174147.2(LMX1B):c.*13C>T rs375458623 0.00021
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=) rs146476348 0.00016
NM_001174147.2(LMX1B):c.*2739C>A rs145602359 0.00009
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala) rs767281663 0.00008
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=) rs540034621 0.00006
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=) rs779330478 0.00004
NM_001174147.2(LMX1B):c.741+14G>A rs527313096 0.00002
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) rs772632723 0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 0.00001
NM_001174147.2(LMX1B):c.*4568C>T rs539011309
NM_001174147.2(LMX1B):c.*634CA[3] rs147813553
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881

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