List of variants in gene GIGYF2, KCNJ13 studied for Leber congenital amaurosis 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002242.4(KCNJ13):c.1482_1484del	rs774385692	0.00019
NM_002242.4(KCNJ13):c.*1742dup	rs746052279
NM_002242.4(KCNJ13):c.*179CT[1]	rs758195599
NM_002242.4(KCNJ13):c.-74CT[1]	rs5839447
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	rs863224884

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