List of variants in gene EVC reported as likely pathogenic by Counsyl

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_153717.3(EVC):c.1564-2A>G	rs1553886849	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.2098-1G>A	rs773019082	0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)	rs896581899	0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	rs1017946059	0.00001
NM_153717.3(EVC):c.702+1G>A	rs1553867138	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)	rs779915989
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)	rs1553857995
NM_153717.3(EVC):c.1373del (p.Gly458fs)	rs760607210
NM_153717.3(EVC):c.1465-3_1472del	rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)	rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs)	rs759106605
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_153717.3(EVC):c.1887-5_1904del	rs779275317
NM_153717.3(EVC):c.2097+1G>T	rs1553891368
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)	rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs)	rs146475474
NM_153717.3(EVC):c.2304+2T>C	rs1553892090
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.2561+1G>A	rs1553894457
NM_153717.3(EVC):c.2668del (p.Gln890fs)	rs1553895755
NM_153717.3(EVC):c.2688+1G>C	rs1553895776
NM_153717.3(EVC):c.2782+1del	rs1169539647
NM_153717.3(EVC):c.301-1G>A	rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.698dup (p.His233fs)	rs1553867117
NM_153717.3(EVC):c.703-1G>A	rs1485152854
NM_153717.3(EVC):c.720del (p.Phe240fs)	rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs)	rs1553871792
NM_153717.3(EVC):c.801+2T>G	rs1553871866
NM_153717.3(EVC):c.802-1G>C	rs150814290
NM_153717.3(EVC):c.939+1G>C	rs1553873138

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