ClinVar Miner

List of variants in gene INSR reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
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.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.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.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000208.4(INSR):c.2666G>A (p.Arg889Gln) rs187282966 0.00046
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.3193C>G (p.Leu1065Val) rs56395521 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.3042C>T (p.Asp1014=) rs369686949 0.00006
NM_000208.4(INSR):c.1433G>A (p.Arg478His) rs750676016 0.00005
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) rs72549237 0.00004
NM_000208.4(INSR):c.3111G>A (p.Val1037=) rs761203697 0.00004
NM_000208.4(INSR):c.3805A>T (p.Met1269Leu) rs375197837 0.00003
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) rs777486535 0.00002
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00002
NM_000208.4(INSR):c.1284T>C (p.Tyr428=) rs794727776 0.00001
NM_000208.4(INSR):c.2327C>T (p.Thr776Met) rs377048253 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.3863A>G (p.Asn1288Ser) rs756542405 0.00001
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.169G>A (p.Glu57Lys) rs886044001
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.350_353del (p.Asn117fs) rs1347163319
NM_000208.4(INSR):c.408G>A (p.Leu136=) rs1568229079
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641

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