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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser)	rs121913147	0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)	rs121913148	0.00001
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)	rs121913144	0.00001
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.2286G>T (p.Arg762Ser)	rs121913138
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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