List of variants in gene GJA8 reported as benign for cataract 1 multiple types

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005267.5(GJA8):c.804C>T (p.Leu268=)	rs3766503	0.04698
NM_005267.5(GJA8):c.741T>G (p.Ile247Met)	rs80358202	0.00365
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser)	rs142376567	0.00163
NM_005267.5(GJA8):c.385G>A (p.Val129Ile)	rs142415337	0.00070
NM_005267.5(GJA8):c.439C>T (p.Leu147=)	rs145974798	0.00036
NM_005267.5(GJA8):c.1157C>T (p.Pro386Leu)	rs149146673	0.00019
NM_005267.5(GJA8):c.1248G>T (p.Leu416=)	rs200369834	0.00016
NM_005267.5(GJA8):c.1045A>G (p.Lys349Glu)	rs782505421	0.00006
NM_005267.5(GJA8):c.356G>A (p.Gly119Glu)	rs200587705	0.00004
NM_005267.4(GJA8):c.*26dup	rs34123490
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln)	rs587673409
NM_005267.5(GJA8):c.1105G>T (p.Gly369Trp)	rs781881392

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