List of variants studied for Donohue syndrome by OMIM

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000208.4(INSR):c.707A>G (p.His236Arg)	rs121913145	0.00002
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter)	rs121913151	0.00001
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu)	rs121913136	0.00001
NC_000019.10:g.(?_7112255)_(7249328_?)del
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg)	rs267607184
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser)	rs121913158
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp)	rs121913160
NM_000208.4(INSR):c.164T>C (p.Val55Ala)	rs121913152
NM_000208.4(INSR):c.172G>A (p.Gly58Arg)	rs52836744
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter)	rs121913137
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter)	rs387906538
NM_000208.4(INSR):c.338G>C (p.Arg113Pro)	rs121913153
NM_000208.4(INSR):c.438C>G (p.Ile146Met)	rs121913159
NM_000208.4(INSR):c.442A>T (p.Lys148Ter)	rs121913155
NM_000208.4(INSR):c.779T>C (p.Leu260Pro)	rs121913141

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