ClinVar Miner

List of variants in gene COPA studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Total variants: 30
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HGVS dbSNP
NM_004371.4(COPA):c.1220C>T (p.Ala407Val) rs559332322
NM_004371.4(COPA):c.1406C>T (p.Ala469Val) rs761705607
NM_004371.4(COPA):c.1472T>C (p.Val491Ala)
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843
NM_004371.4(COPA):c.2314G>A (p.Glu772Lys) rs1334352247
NM_004371.4(COPA):c.2317A>C (p.Ser773Arg)
NM_004371.4(COPA):c.2398C>T (p.Pro800Ser) rs1557861270
NM_004371.4(COPA):c.2504_2509TTGACA[1] (p.835_836ID[1])
NM_004371.4(COPA):c.2519T>C (p.Val840Ala) rs778952692
NM_004371.4(COPA):c.251G>A (p.Arg84His)
NM_004371.4(COPA):c.2575G>T (p.Val859Leu) rs540161688
NM_004371.4(COPA):c.2683T>G (p.Ser895Ala) rs139398871
NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) rs764620128
NM_004371.4(COPA):c.3147+4G>A
NM_004371.4(COPA):c.3184G>T (p.Val1062Leu) rs138625189
NM_004371.4(COPA):c.3433C>T (p.Leu1145=) rs747075563
NM_004371.4(COPA):c.436A>G (p.Thr146Ala) rs57425682
NM_004371.4(COPA):c.509A>G (p.Lys170Arg)
NM_004371.4(COPA):c.607-8_607-7del rs1553206195
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993
NM_004371.4(COPA):c.715G>C (p.Ala239Pro) rs1557868211
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.722A>C (p.Glu241Ala) rs1557868201
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004371.4(COPA):c.753T>C (p.Asn251=) rs374078706
NM_004371.4(COPA):c.766G>C (p.Val256Leu)
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)
NM_004371.4(COPA):c.863G>A (p.Arg288His) rs781647709
NM_004371.4(COPA):c.925+2T>C

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