ClinVar Miner

List of variants in gene ADAMTS18 reported as pathogenic for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_199355.4(ADAMTS18):c.3380G>A (p.Trp1127Ter) rs139516327 0.00013
NM_199355.4(ADAMTS18):c.3025C>T (p.Arg1009Ter) rs751029682 0.00002
NM_199355.4(ADAMTS18):c.1252C>T (p.Arg418Ter) rs763330900 0.00001
NM_199355.4(ADAMTS18):c.2374C>T (p.Arg792Ter) rs747773771 0.00001
NM_199355.4(ADAMTS18):c.3334C>T (p.Arg1112Ter) rs776870884 0.00001
NM_199355.4(ADAMTS18):c.736C>T (p.Arg246Ter) rs2056812732 0.00001
NM_199355.4(ADAMTS18):c.766C>T (p.Arg256Ter) rs762638651 0.00001
GRCh37/hg19 16q23.1(chr16:77302151-77323245)x1
GRCh37/hg19 16q23.1(chr16:77306614-77373261)x1
GRCh37/hg19 16q23.1(chr16:77319898-77463907)x1
NC_000016.9:g.(?_77317853)_(77468592_?)del
NC_000016.9:g.(?_77325143)_(77359955_?)del
NC_000016.9:g.(?_77331166)_(77331332_?)del
NM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter) rs935159456
NM_199355.4(ADAMTS18):c.1399G>T (p.Gly467Ter)
NM_199355.4(ADAMTS18):c.1642C>T (p.Arg548Ter)
NM_199355.4(ADAMTS18):c.1998G>A (p.Trp666Ter) rs1254842178
NM_199355.4(ADAMTS18):c.2085del (p.Phe695fs)
NM_199355.4(ADAMTS18):c.2110G>T (p.Gly704Ter) rs2056017907
NM_199355.4(ADAMTS18):c.2204C>G (p.Ser735Ter)
NM_199355.4(ADAMTS18):c.230C>G (p.Ser77Ter) rs1353109719
NM_199355.4(ADAMTS18):c.2364C>G (p.Tyr788Ter)
NM_199355.4(ADAMTS18):c.2435del (p.Phe812fs)
NM_199355.4(ADAMTS18):c.262C>T (p.Arg88Ter)
NM_199355.4(ADAMTS18):c.2813del (p.Gly938fs) rs2144577875
NM_199355.4(ADAMTS18):c.3006+1G>A rs1195694707
NM_199355.4(ADAMTS18):c.3067del (p.Ala1023fs) rs2144571454
NM_199355.4(ADAMTS18):c.3082G>T (p.Glu1028Ter)
NM_199355.4(ADAMTS18):c.3105del (p.Arg1036fs) rs1451537398
NM_199355.4(ADAMTS18):c.3139C>T (p.Arg1047Ter) rs1011453043
NM_199355.4(ADAMTS18):c.3199_3217dup (p.Arg1073fs)
NM_199355.4(ADAMTS18):c.3244A>T (p.Lys1082Ter) rs2144565433
NM_199355.4(ADAMTS18):c.3280C>T (p.Arg1094Ter)
NM_199355.4(ADAMTS18):c.421C>T (p.Gln141Ter)
NM_199355.4(ADAMTS18):c.550del (p.Leu184fs)
NM_199355.4(ADAMTS18):c.589dup (p.His197fs) rs2144744755
NM_199355.4(ADAMTS18):c.622G>T (p.Glu208Ter)
NM_199355.4(ADAMTS18):c.654del (p.Gly219fs) rs764863191
NM_199355.4(ADAMTS18):c.749del (p.Lys250fs)
NM_199355.4(ADAMTS18):c.916del (p.Val306fs) rs868732406
NM_199355.4(ADAMTS18):c.934G>T (p.Gly312Ter)

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