List of variants in gene KCNV2 reported as pathogenic for Cone dystrophy with supernormal rod response

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)	rs1402837406	0.00003
NG_012181.1:g.5233_16321delinsCATTTG
NM_133497.4(KCNV2):c.1007ACCTGGTGG[1] (p.Asp339_Val341del)	rs786205064
NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp)	rs104894115
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	rs149648640
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter)	rs387907302
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)	rs104894113
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter)	rs140256288
NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser)	rs397514604
NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp)	rs104894116
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)	rs786205121
NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter)	rs104894114
NM_133497.4:c.1357_1638del	rs1820025037

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