List of variants reported as likely pathogenic for NK-cell enteropathy

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)	rs140472977	0.00001
NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp)	rs1596476061
NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu)	rs936256673
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)	rs1422380205
NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly)	rs1601446826
NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp)	rs1574631977
NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)	rs1597343914
NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr)	rs1575051224
NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp)	rs1577033077
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)	rs121908706
NM_021913.5(AXL):c.2161C>G (p.Leu721Val)	rs1599744167
NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)	rs1587007112

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