ClinVar Miner

List of variants reported as likely benign for nail-patella syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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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.1059C>T (p.Asp353=) rs148940265 0.00056
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=) rs544649941 0.00051
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001174147.2(LMX1B):c.327-17G>A rs372620265 0.00026
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.549G>A (p.Glu183=) rs775705878 0.00011
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) rs536687637 0.00010
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.139+19C>T rs371424668 0.00006
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=) rs540034621 0.00006
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=) rs550024836 0.00006
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=) rs138385790 0.00004
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.1052-19C>T rs770215617 0.00001
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) rs772632723 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 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.327-6C>T rs572751023
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=) rs368736494
NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile) rs2118997138
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881

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