ClinVar Miner

Variants in gene INSR with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322 0.00285
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
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.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
NM_000208.4(INSR):c.3042C>T (p.Asp1014=) rs369686949 0.00006
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.653-9T>C rs868296217

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