List of variants in gene combination GIGYF2, KCNJ13 reported as pathogenic for Leber congenital amaurosis 16

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)	rs786205550	0.00001
NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)	rs1475176373	0.00001
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)	rs869320631
NM_002242.4(KCNJ13):c.494del (p.Asn165fs)	rs1699091441
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)	rs387906858
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)	rs143607153

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