ClinVar Miner

List of variants reported as likely benign for Leprechaunism syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
NM_000208.4(INSR):c.*498_*499insTT rs71775166 0.00598
NM_000208.4(INSR):c.*501T>G rs562228680 0.00400
NM_000208.4(INSR):c.*2820G>A rs139376149 0.00394
NM_000208.4(INSR):c.*1870C>G rs41315072 0.00376
NM_000208.4(INSR):c.*394del rs140291876 0.00350
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000208.4(INSR):c.*1171C>T rs188386673 0.00225
NM_000208.4(INSR):c.*4760G>A rs574836227 0.00186
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.*1116G>A rs146905190 0.00051
NM_000208.3(INSR):c.*4803G>A rs138569451 0.00048
NM_000208.4(INSR):c.*3359G>A rs146249924 0.00038
NM_000208.4(INSR):c.*1799C>T rs147080388 0.00033
NM_000208.4(INSR):c.*2565C>T rs117532686 0.00029
NM_000208.4(INSR):c.*2456C>T rs145777450 0.00025
NM_000208.4(INSR):c.*3685T>C rs143409422 0.00025
NM_000208.4(INSR):c.*3877T>C rs148660410 0.00025
NM_000208.4(INSR):c.*1192G>A rs142596192 0.00011
NM_000208.4(INSR):c.*2014C>T rs556567528 0.00003
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449 0.00001
NM_000208.4(INSR):c.*130A>T rs571448308
NM_000208.4(INSR):c.*3365C>A rs561270909
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658

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