ClinVar Miner

List of variants in gene INSR reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.1584G>A (p.Leu528=) rs145334760 0.00048
NM_000208.4(INSR):c.1191C>T (p.Ile397=) rs56135071 0.00015
NM_000208.4(INSR):c.2976C>T (p.Tyr992=) rs191756282 0.00015
NM_000208.4(INSR):c.690C>T (p.Ala230=) rs373720760 0.00014
NM_000208.4(INSR):c.3591G>C (p.Leu1197=) rs776228235 0.00012
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.2766C>T (p.Ser922=) rs145713001 0.00011
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.123G>T (p.Arg41=) rs372938158 0.00007
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.1179G>T (p.Gly393=) rs140573575
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.653-23TC[13] rs3835070
NM_000208.4(INSR):c.653-23TC[15] rs3835070
NM_000208.4(INSR):c.653-23TC[8] rs3835070
NM_000208.4(INSR):c.653-7_653-6insTC rs1555746860

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