List of variants in gene EVC reported as uncertain significance by Eurofins NTD LLC (GA)

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)	rs41269557	0.00201
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	rs41269549	0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=)	rs866226288	0.00194
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)	rs886044558	0.00121
NM_153717.3(EVC):c.1770C>T (p.Asp590=)	rs141755737	0.00079
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	rs150373930	0.00067
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)	rs113002470	0.00051
NM_153717.3(EVC):c.1653G>A (p.Pro551=)	rs151293705	0.00044
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)	rs141896077	0.00042
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)	rs139481521	0.00041
NM_153717.3(EVC):c.1928G>A (p.Arg643His)	rs144906677	0.00029
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)	rs149537641	0.00024
NM_153717.3(EVC):c.2449+4C>T	rs753679138	0.00013
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)	rs145645536	0.00010
NM_153717.3(EVC):c.1807G>A (p.Val603Met)	rs886042994	0.00006
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr)	rs370388849	0.00004
NM_153717.3(EVC):c.2305-6C>T	rs781705295	0.00004
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)	rs749008952	0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)	rs371682994	0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=)	rs967986192	0.00003
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)	rs752906200	0.00002
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)	rs745640537	0.00001
NM_153717.3(EVC):c.1315+7C>T	rs1252318929	0.00001
NM_153717.3(EVC):c.1315+8G>A	rs550411377	0.00001
NM_153717.3(EVC):c.1041G>A (p.Thr347=)	rs148418233
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg)	rs886043999
NM_153717.3(EVC):c.1203C>T (p.Ser401=)	rs867155796
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)	rs757227773
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)	rs35401386
NM_153717.3(EVC):c.2449+10C>A	rs758387379
NM_153717.3(EVC):c.698A>G (p.His233Arg)	rs769431829
NM_153717.3(EVC):c.802-15_802-9delinsT	rs1577406898
NM_153717.3(EVC):c.802-17TTC[3]	rs370315662

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