ClinVar Miner

List of variants reported as pathogenic for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_40371710)_(40371880_?)del
NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter) rs2080191165
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1102dup (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)
NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter) rs767959957
NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter)
NM_012448.4(STAT5B):c.1749del (p.Lys583fs)
NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)
NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter) rs778995803
NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)
NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter)
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) rs2144267361
NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)

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