List of variants in gene C14orf39, SIX6 studied for Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_007374.3(SIX6):c.421C>A (p.His141Asn)	rs33912345	0.45414
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)	rs45549246	0.00324
NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)	rs786204851
NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)	rs104894480
NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	rs786205142
NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)	rs748077751

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