List of variants in gene KCNV2 reported as likely pathogenic

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter)	rs778977288	0.00001
NM_133497.4(KCNV2):c.1A>G (p.Met1Val)	rs760755040	0.00001
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter)	rs763785730	0.00001
NC_000009.11:g.2716981_2787016del
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs)	rs1554628460
NM_133497.4(KCNV2):c.1096del (p.Val366fs)	rs1486482604
NM_133497.4(KCNV2):c.1199del (p.Phe400fs)	rs768486552
NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg)	rs748180390
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	rs149648640
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)	rs149648640
NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg)	rs1586692857
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter)	rs950492553
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)	rs202036979
NM_133497.4(KCNV2):c.381del (p.Thr128fs)	rs141099767
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)	rs748280472
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)	rs104894113
NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly)	rs1586686896
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs)	rs1819778559
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)	rs1819778622
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg)	rs977790637
NM_133497.4(KCNV2):c.596G>A (p.Cys199Tyr)	rs770865610
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter)	rs1819787095
NM_133497.4(KCNV2):c.758del (p.Pro253fs)	rs1586687247
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly)	rs754275640
NM_133497.4(KCNV2):c.959G>A (p.Arg320His)	rs1369674746
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)	rs1819797791

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