ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) rs61749920 0.02543
NM_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 0.01527
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_012448.4(STAT5B):c.247C>T (p.Leu83=) rs146176992 0.00415
NM_012448.4(STAT5B):c.2077+12C>T rs80293897 0.00362
NM_012448.4(STAT5B):c.285+12C>T rs138605388 0.00297
NM_012448.4(STAT5B):c.690C>T (p.Ala230=) rs555155085 0.00268
NM_012448.4(STAT5B):c.1335A>G (p.Glu445=) rs111880437 0.00232
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_012448.4(STAT5B):c.376-15C>G rs201981865 0.00129
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=) rs143172354 0.00034
NM_012448.4(STAT5B):c.1725C>T (p.Asp575=) rs75130700 0.00025
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) rs572536541 0.00012
NM_012448.4(STAT5B):c.162C>T (p.Asn54=) rs201916641 0.00005
NM_012448.4(STAT5B):c.171C>T (p.Ala57=) rs200136266 0.00004
NM_012448.4(STAT5B):c.1257+11A>C
NM_012448.4(STAT5B):c.2078-9C>T

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