ClinVar Miner

List of variants in gene INSR studied for hyperinsulinism

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
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.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
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.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
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.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00002
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) rs121913147 0.00001
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.1610+2T>C rs797045624 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.1266T>C (p.Ile422=)
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000208.4(INSR):c.1610+5G>A
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys)
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser)
NM_000208.4(INSR):c.3196C>T (p.Arg1066Ter)
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.359T>C (p.Leu120Pro)
NM_000208.4(INSR):c.3601C>G (p.Arg1201Gly)
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)

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