List of variants in gene CERKL, LOC129935214 studied for retinal disorder

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_201548.5(CERKL):c.199G>A (p.Ala67Thr)	rs61733527	0.01270
NM_201548.5(CERKL):c.191G>A (p.Ser64Asn)	rs61760902	0.00009
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter)	rs201186440	0.00008
NM_201548.5(CERKL):c.222del (p.Gln74fs)	rs1476585944	0.00003
NM_201548.5(CERKL):c.238+1G>A	rs1276597208	0.00001
NM_201548.5(CERKL):c.180C>T (p.Asp60=)	rs1688188231
NM_201548.5(CERKL):c.182T>A (p.Val61Glu)	rs1472885040
NM_201548.5(CERKL):c.184G>T (p.Val62Leu)	rs1574077394
NM_201548.5(CERKL):c.237_238+13del	rs746128841
NM_201548.5(CERKL):c.238+1G>T
NM_201548.5(CERKL):c.238+5G>A	rs1688180732
NM_201548.5(CERKL):c.238+6T>C	rs749540242
NM_201548.5(CERKL):c.238G>A (p.Gly80Ser)

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