ClinVar Miner

List of variants in gene CEP83 studied for abdominal and pelvic region disorder

Included ClinVar conditions (961):
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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys)
NM_016122.3(CEP83):c.1131dup (p.Arg378fs)
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg)
NM_016122.3(CEP83):c.1203C>T (p.Leu401=) rs189675715
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter) rs587777486
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)
NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp)
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly) rs577668407
NM_016122.3(CEP83):c.1339G>A (p.Val447Ile)
NM_016122.3(CEP83):c.1366G>A (p.Val456Met)
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) rs139046818
NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe)
NM_016122.3(CEP83):c.1470T>C (p.Asn490=) rs780167307
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter) rs587777488
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro) rs587777487
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg) rs150415429
NM_016122.3(CEP83):c.1582T>C (p.Leu528=) rs199593910
NM_016122.3(CEP83):c.1634G>A (p.Arg545His)
NM_016122.3(CEP83):c.173+3A>G
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter) rs1207804224
NM_016122.3(CEP83):c.2072_2074AAC[1] (p.Gln692del) rs879255576
NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg)
NM_016122.3(CEP83):c.236C>T (p.Thr79Ile)
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter) rs368619022
NM_016122.3(CEP83):c.253C>G (p.Gln85Glu)
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del) rs879255575
NM_016122.3(CEP83):c.408T>C (p.Asn136=) rs148769208
NM_016122.3(CEP83):c.417+3A>G
NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys)
NM_016122.3(CEP83):c.437C>T (p.Ala146Val) rs115988985
NM_016122.3(CEP83):c.479C>T (p.Ser160Leu) rs747045010
NM_016122.3(CEP83):c.613A>G (p.Lys205Glu) rs770141064
NM_016122.3(CEP83):c.61G>A (p.Asp21Asn)
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167
NM_016122.3(CEP83):c.643C>G (p.Arg215Gly)
NM_016122.3(CEP83):c.653T>C (p.Val218Ala)
NM_016122.3(CEP83):c.706G>A (p.Ala236Thr)
NM_016122.3(CEP83):c.737A>G (p.Glu246Gly)
NM_016122.3(CEP83):c.764A>G (p.Gln255Arg)
NM_016122.3(CEP83):c.76G>A (p.Gly26Ser)
NM_016122.3(CEP83):c.790A>G (p.Arg264Gly)
NM_016122.3(CEP83):c.796C>G (p.Leu266Val)
NM_016122.3(CEP83):c.835C>T (p.Arg279Cys)
NM_016122.3(CEP83):c.860G>A (p.Ser287Asn) rs893839841
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)

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