ClinVar Miner

List of variants in gene LRIG2 studied for Ochoa syndrome

Included ClinVar conditions (3):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014813.3(LRIG2):c.2124A>C (p.Thr708=) rs1216793 0.90801
NM_014813.3(LRIG2):c.2531-22G>A rs1216791 0.76776
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) rs201013312 0.00016
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) rs554758747 0.00003
NM_014813.1(LRIG2):c.1799-2_1799-1delAG rs1570764426
NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)
NM_014813.3(LRIG2):c.1230del (p.Glu410fs) rs587776945
NM_014813.3(LRIG2):c.2088del (p.Ser697fs) rs587776947
NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) rs587776946

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