List of variants in gene KCNV2 reported by CeGaT Center for Human Genetics Tuebingen

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_133497.4(KCNV2):c.849G>A (p.Glu283=)	rs17656693	0.00801
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)	rs142744007	0.00709
NM_133497.4(KCNV2):c.291C>T (p.Ser97=)	rs113456345	0.00237
NM_133497.4(KCNV2):c.1607A>G (p.Asn536Ser)	rs77811928	0.00165
NM_133497.4(KCNV2):c.828G>A (p.Ala276=)	rs144330480	0.00076
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu)	rs757516625	0.00007
NM_133497.4(KCNV2):c.666G>C (p.Ala222=)	rs746837965	0.00003
NM_133497.4(KCNV2):c.1408G>A (p.Gly470Ser)	rs990370382	0.00002
NM_133497.4(KCNV2):c.1030C>A (p.Leu344Met)	rs1819800386
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)	rs138924201
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)	rs1819778622
NM_133497.4(KCNV2):c.762C>G (p.Phe254Leu)	rs147022958
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)	rs786205121

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