ClinVar Miner

List of variants in gene combination EVC2, LOC126806961 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp) rs1717255624
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+6A>G

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