ClinVar Miner

List of variants in gene CCDC50 studied for not provided

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_178335.3(CCDC50):c.50-4C>G rs188384 0.65003
NM_178335.3(CCDC50):c.976+56A>G rs293806 0.63457
NM_178335.3(CCDC50):c.331-157G>A rs697905 0.63447
NM_178335.3(CCDC50):c.977-40C>T rs293812 0.58388
NM_178335.3(CCDC50):c.1092+58C>T rs293814 0.58227
NM_178335.3(CCDC50):c.1243-170C>T rs441509 0.58219
NM_178335.3(CCDC50):c.1242+10G>A rs211043 0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) rs364519 0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) rs293813 0.58148
NM_178335.3(CCDC50):c.976+97T>C rs4677730 0.49139
NM_178335.3(CCDC50):c.651T>C (p.His217=) rs2028572 0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) rs2028574 0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) rs4677728 0.49101
NM_178335.3(CCDC50):c.976+6A>G rs4677729 0.49066
NM_178335.3(CCDC50):c.1323-93A>G rs436393 0.41825
NM_178335.3(CCDC50):c.1429+225G>A rs438589 0.41693
NM_178335.3(CCDC50):c.112+73G>T rs1520203 0.37533
NM_178335.3(CCDC50):c.331-269C>A rs4677631 0.32232
NM_178335.3(CCDC50):c.331-231G>A rs4677727 0.32229
NM_178335.3(CCDC50):c.331-162A>G rs4677632 0.32192
NM_178335.3(CCDC50):c.228C>T (p.Arg76=) rs11542549 0.30180
NM_178335.3(CCDC50):c.113-131G>A rs13434281 0.19771
NM_178335.3(CCDC50):c.113-138A>G rs28627146 0.19092
NM_178335.3(CCDC50):c.678A>G (p.Lys226=) rs2028573 0.18258
NM_178335.3(CCDC50):c.1430-296C>T rs9868495 0.18220
NM_178335.3(CCDC50):c.1322+28A>T rs9838011 0.18188
NM_178335.3(CCDC50):c.1323-262G>T rs16822378 0.09660
NM_178335.3(CCDC50):c.448+169T>C rs73185226 0.08982
NM_178335.3(CCDC50):c.331-308G>C rs13318724 0.07001
NM_178335.3(CCDC50):c.1429+54C>T rs74519151 0.05989
NM_178335.3(CCDC50):c.1137+19C>G rs1474188 0.05270
NM_178335.3(CCDC50):c.363A>T (p.Leu121Phe) rs35380043 0.03217
NM_178335.3(CCDC50):c.976+265C>T rs116720825 0.02491
NM_178335.3(CCDC50):c.976+248A>G rs115416641 0.01907
NM_178335.3(CCDC50):c.240-84G>A rs78232378 0.01812
NM_178335.3(CCDC50):c.977-43C>T rs79890347 0.01811
NM_178335.3(CCDC50):c.239+301G>A rs115052974 0.01645
NM_178335.3(CCDC50):c.1429+273T>A rs868701416 0.01604
NM_178335.3(CCDC50):c.448+268G>A rs145465944 0.01582
NM_178335.3(CCDC50):c.331-270A>C rs7618689 0.01461
NM_178335.3(CCDC50):c.1396C>T (p.Arg466Trp) rs147604673 0.01345
NM_178335.3(CCDC50):c.977-244G>A rs115164089 0.01266
NM_178335.3(CCDC50):c.976+41A>C rs77846288 0.01210
NM_178335.3(CCDC50):c.112+67C>T rs116785872 0.01164
NM_178335.3(CCDC50):c.1092+43A>T rs183941512 0.00387
NM_178335.3(CCDC50):c.1181A>G (p.Lys394Arg) rs114502673 0.00322
NM_178335.3(CCDC50):c.240-285A>G rs76748166 0.00319
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_178335.3(CCDC50):c.1242+42A>T rs114637092 0.00145
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_178335.3(CCDC50):c.626C>T (p.Ser209Leu) rs115771997 0.00082
NM_178335.3(CCDC50):c.113-36C>T rs140717780 0.00057
NM_178335.3(CCDC50):c.1429+5G>A rs375535283 0.00038
NM_178335.3(CCDC50):c.227G>A (p.Arg76His) rs138443787 0.00027
NM_178335.3(CCDC50):c.240-17T>C rs772018999 0.00026
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_178335.3(CCDC50):c.1323-51T>C rs117174362 0.00022
NM_178335.3(CCDC50):c.1077A>G (p.Gln359=) rs150185161 0.00012
NM_178335.3(CCDC50):c.808C>T (p.Arg270Ter) rs774926550 0.00012
NM_178335.3(CCDC50):c.113-4C>G rs145892736 0.00007
NM_178335.3(CCDC50):c.239+16G>A rs374361271 0.00007
NM_178335.3(CCDC50):c.207G>A (p.Ala69=) rs370296131 0.00006
NM_178335.3(CCDC50):c.726T>C (p.Ser242=) rs570376411 0.00006
NM_178335.3(CCDC50):c.976+19G>A rs370227079 0.00005
NM_178335.3(CCDC50):c.1116C>T (p.Ala372=) rs200184334 0.00004
NM_178335.3(CCDC50):c.153G>A (p.Leu51=) rs201015131 0.00004
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly) rs753554570 0.00004
NM_178335.3(CCDC50):c.412C>T (p.Arg138Cys) rs749540956 0.00004
NM_178335.3(CCDC50):c.553G>A (p.Glu185Lys) rs766000838 0.00004
NM_178335.3(CCDC50):c.1359G>A (p.Ala453=) rs187841562 0.00003
NM_178335.3(CCDC50):c.90T>C (p.Ala30=) rs771813708 0.00003
NM_178335.3(CCDC50):c.1003G>A (p.Ala335Thr) rs727502917 0.00002
NM_178335.3(CCDC50):c.1006G>A (p.Val336Ile) rs765375664 0.00002
NM_178335.3(CCDC50):c.1438T>G (p.Tyr480Asp) rs764246603 0.00002
NM_178335.3(CCDC50):c.599C>T (p.Ser200Leu) rs146653620 0.00002
NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) rs1032719052 0.00002
NM_178335.3(CCDC50):c.1056T>C (p.Ala352=) rs376385256 0.00001
NM_178335.3(CCDC50):c.1093-4A>G rs376118427 0.00001
NM_178335.3(CCDC50):c.1137+17A>C rs1168872711 0.00001
NM_178335.3(CCDC50):c.1148G>A (p.Arg383Gln) rs779028705 0.00001
NM_178335.3(CCDC50):c.1406C>T (p.Ser469Leu) rs369230750 0.00001
NM_178335.3(CCDC50):c.1430-9C>G rs794727079 0.00001
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys) rs575240044 0.00001
NM_178335.3(CCDC50):c.821G>A (p.Arg274Gln) rs199527848 0.00001
NM_178335.3(CCDC50):c.827C>G (p.Ser276Ter) rs574188668 0.00001
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg) rs1064796789 0.00001
NC_000003.11:g.(?_191074857)_(191109549_?)del
NM_178335.3(CCDC50):c.*7_*14del
NM_178335.3(CCDC50):c.1015C>T (p.Pro339Ser)
NM_178335.3(CCDC50):c.1043A>G (p.Glu348Gly) rs2108667962
NM_178335.3(CCDC50):c.1051G>A (p.Asp351Asn)
NM_178335.3(CCDC50):c.1057G>C (p.Glu353Gln)
NM_178335.3(CCDC50):c.1062T>A (p.Ile354=)
NM_178335.3(CCDC50):c.1078GAA[2] (p.Glu362del) rs774946397
NM_178335.3(CCDC50):c.1092+12T>C
NM_178335.3(CCDC50):c.1093-5_1093-3del
NM_178335.3(CCDC50):c.1106A>C (p.Asp369Ala)
NM_178335.3(CCDC50):c.1106A>T (p.Asp369Val) rs778952598
NM_178335.3(CCDC50):c.1117G>A (p.Ala373Thr)
NM_178335.3(CCDC50):c.1137+11G>T
NM_178335.3(CCDC50):c.1159G>A (p.Ala387Thr)
NM_178335.3(CCDC50):c.1195C>T (p.Arg399Trp)
NM_178335.3(CCDC50):c.1216A>G (p.Lys406Glu)
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178335.3(CCDC50):c.1233C>T (p.Pro411=)
NM_178335.3(CCDC50):c.1234G>A (p.Glu412Lys)
NM_178335.3(CCDC50):c.1242+10G>C rs211043
NM_178335.3(CCDC50):c.1243-16G>T
NM_178335.3(CCDC50):c.1243-87G>T rs383529
NM_178335.3(CCDC50):c.1258G>A (p.Ala420Thr)
NM_178335.3(CCDC50):c.1261G>A (p.Ala421Thr)
NM_178335.3(CCDC50):c.1271A>C (p.Lys424Thr)
NM_178335.3(CCDC50):c.127G>A (p.Ala43Thr) rs2108648959
NM_178335.3(CCDC50):c.1280A>G (p.Glu427Gly)
NM_178335.3(CCDC50):c.1285G>A (p.Asp429Asn)
NM_178335.3(CCDC50):c.128C>G (p.Ala43Gly)
NM_178335.3(CCDC50):c.1291C>A (p.Pro431Thr) rs139060348
NM_178335.3(CCDC50):c.1321C>T (p.Arg441Trp)
NM_178335.3(CCDC50):c.1322+19A>G
NM_178335.3(CCDC50):c.134A>G (p.Asn45Ser) rs1712350138
NM_178335.3(CCDC50):c.1358C>T (p.Ala453Val)
NM_178335.3(CCDC50):c.1368T>G (p.Thr456=)
NM_178335.3(CCDC50):c.137T>C (p.Val46Ala)
NM_178335.3(CCDC50):c.1419C>T (p.Ser473=) rs2108677118
NM_178335.3(CCDC50):c.1426A>G (p.Lys476Glu)
NM_178335.3(CCDC50):c.1429+13T>C
NM_178335.3(CCDC50):c.1430-11C>G
NM_178335.3(CCDC50):c.1439A>G (p.Tyr480Cys)
NM_178335.3(CCDC50):c.147C>T (p.Asn49=)
NM_178335.3(CCDC50):c.168C>G (p.Leu56=) rs1315088319
NM_178335.3(CCDC50):c.194A>G (p.Glu65Gly) rs1576958624
NM_178335.3(CCDC50):c.218T>C (p.Leu73Pro) rs2108649071
NM_178335.3(CCDC50):c.239+13G>A
NM_178335.3(CCDC50):c.240-112_240-111del rs138227942
NM_178335.3(CCDC50):c.240-4T>A
NM_178335.3(CCDC50):c.254G>T (p.Cys85Phe) rs2108651367
NM_178335.3(CCDC50):c.321G>A (p.Lys107=)
NM_178335.3(CCDC50):c.331-5del rs775236607
NM_178335.3(CCDC50):c.394C>T (p.Pro132Ser) rs376944531
NM_178335.3(CCDC50):c.413G>C (p.Arg138Pro) rs557807225
NM_178335.3(CCDC50):c.419A>T (p.Tyr140Phe)
NM_178335.3(CCDC50):c.427A>C (p.Ser143Arg)
NM_178335.3(CCDC50):c.448+267T>C rs141816862
NM_178335.3(CCDC50):c.448+5C>A rs1036708407
NM_178335.3(CCDC50):c.453A>G (p.Gln151=)
NM_178335.3(CCDC50):c.459G>T (p.Gly153=)
NM_178335.3(CCDC50):c.464G>A (p.Arg155Lys)
NM_178335.3(CCDC50):c.497G>T (p.Arg166Ile) rs1131691638
NM_178335.3(CCDC50):c.50-69dup rs879004278
NM_178335.3(CCDC50):c.50-86del rs35377745
NM_178335.3(CCDC50):c.520G>A (p.Gly174Arg) rs1404575659
NM_178335.3(CCDC50):c.530_531del (p.Val177fs) rs774230614
NM_178335.3(CCDC50):c.56G>A (p.Arg19Gln)
NM_178335.3(CCDC50):c.574G>C (p.Glu192Gln)
NM_178335.3(CCDC50):c.620C>T (p.Ser207Phe)
NM_178335.3(CCDC50):c.627G>A (p.Ser209=)
NM_178335.3(CCDC50):c.643A>G (p.Asn215Asp)
NM_178335.3(CCDC50):c.655A>G (p.Asn219Asp)
NM_178335.3(CCDC50):c.655_656dup (p.Asn219fs)
NM_178335.3(CCDC50):c.659dup (p.Asn220fs)
NM_178335.3(CCDC50):c.666G>T (p.Gln222His)
NM_178335.3(CCDC50):c.669T>G (p.His223Gln)
NM_178335.3(CCDC50):c.678_679inv (p.Arg227Trp)
NM_178335.3(CCDC50):c.680G>A (p.Arg227Gln)
NM_178335.3(CCDC50):c.698C>A (p.Pro233His)
NM_178335.3(CCDC50):c.698C>T (p.Pro233Leu)
NM_178335.3(CCDC50):c.718A>G (p.Thr240Ala)
NM_178335.3(CCDC50):c.735G>A (p.Val245=)
NM_178335.3(CCDC50):c.748G>C (p.Glu250Gln) rs2108663074
NM_178335.3(CCDC50):c.759C>A (p.Asp253Glu) rs758591090
NM_178335.3(CCDC50):c.765G>T (p.Glu255Asp)
NM_178335.3(CCDC50):c.800A>G (p.Lys267Arg)
NM_178335.3(CCDC50):c.808C>G (p.Arg270Gly)
NM_178335.3(CCDC50):c.809G>A (p.Arg270Gln)
NM_178335.3(CCDC50):c.820C>G (p.Arg274Gly) rs762982877
NM_178335.3(CCDC50):c.820C>T (p.Arg274Ter)
NM_178335.3(CCDC50):c.84C>T (p.Thr28=)
NM_178335.3(CCDC50):c.873A>G (p.Val291=)
NM_178335.3(CCDC50):c.886C>A (p.His296Asn) rs201801914
NM_178335.3(CCDC50):c.895G>A (p.Gly299Ser)
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr) rs896068890
NM_178335.3(CCDC50):c.925A>G (p.Arg309Gly)
NM_178335.3(CCDC50):c.932C>T (p.Pro311Leu)
NM_178335.3(CCDC50):c.967C>T (p.His323Tyr)
NM_178335.3(CCDC50):c.972C>G (p.Asp324Glu) rs752997734
NM_178335.3(CCDC50):c.972C>T (p.Asp324=)
NM_178335.3(CCDC50):c.973G>A (p.Ala325Thr)
NM_178335.3(CCDC50):c.976+10G>C rs530179056
NM_178335.3(CCDC50):c.976+18C>A
NM_178335.3(CCDC50):c.976+19G>T
NM_178335.3(CCDC50):c.976+91TC[2] rs2307645
NM_178335.3(CCDC50):c.977-10_977-9insG
NM_178335.3(CCDC50):c.977-19T>C
NM_178335.3(CCDC50):c.977-2dup rs397874464
NM_178335.3(CCDC50):c.977-5del rs34031057
NM_178335.3(CCDC50):c.977-5dup rs34031057
NM_178335.3(CCDC50):c.977-6_977-5dup rs34031057
NM_178335.3(CCDC50):c.983A>T (p.Lys328Met)
NM_178335.3(CCDC50):c.988A>G (p.Arg330Gly)

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