ClinVar Miner

List of variants in gene INSR reported as pathogenic for Insulin-resistant diabetes mellitus AND acanthosis nigricans

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Total variants: 13
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HGVS dbSNP
INSR, EX17, ALU
NM_000208.2:c.[1465A>G;3160G>A]
NM_000208.3(INSR):c.2683-542_2842+544del
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) rs121913147
NM_000208.4(INSR):c.2286G>T (p.Arg762Ser) rs121913138
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) rs121913144
NM_000208.4(INSR):c.3104G>T (p.Gly1035Val) rs121913135
NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) rs121913139
NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu) rs121913154
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser) rs121913140
NM_000208.4(INSR):c.479G>A (p.Trp160Ter) rs121913146

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