ClinVar Miner

List of variants studied for polydactyly of a triphalangeal thumb

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_022458.4(LMBR1):c.*383T>C rs3487 0.17784
NM_022458.4(LMBR1):c.*1325C>T rs1053214 0.17503
NM_022458.4(LMBR1):c.*2089G>A rs17837686 0.13188
NM_022458.4(LMBR1):c.1092C>T (p.Val364=) rs59912051 0.10405
NM_022458.4(LMBR1):c.*89A>T rs3735186 0.08395
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) rs6957768 0.07428
NM_022458.4(LMBR1):c.*1444T>G rs17837687 0.04775
NM_022458.4(LMBR1):c.*1971A>T rs12530942 0.03709
NM_022458.4(LMBR1):c.357T>C (p.Cys119=) rs112583005 0.03004
NM_022458.4(LMBR1):c.*91C>T rs75853117 0.02727
NM_022458.4(LMBR1):c.*2603A>G rs1014236 0.02144
NM_022458.4(LMBR1):c.*1922A>G rs75582340 0.01984
NM_022458.4(LMBR1):c.*722G>C rs11982416 0.01743
NM_022458.4(LMBR1):c.*1905C>G rs115581794 0.01706
NM_022458.4(LMBR1):c.*15G>A rs78838110 0.00995
NM_022458.4(LMBR1):c.*2489T>C rs191993720 0.00644
NM_022458.4(LMBR1):c.*1797G>C rs113036233 0.00464
NM_022458.4(LMBR1):c.*303T>C rs115465818 0.00434
NM_022458.4(LMBR1):c.*685G>A rs149399222 0.00426
NM_022458.4(LMBR1):c.*2609C>T rs114295738 0.00371
NM_022458.4(LMBR1):c.*36C>T rs79881605 0.00349
NM_022458.4(LMBR1):c.*100T>G rs111554843 0.00347
NM_022458.4(LMBR1):c.*3207T>G rs116521088 0.00342
NM_022458.4(LMBR1):c.*2081G>A rs113867033 0.00235
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
NM_022458.4(LMBR1):c.*1357A>G rs568810522 0.00153
NM_022458.4(LMBR1):c.*2926G>C rs148658727 0.00148
NM_022458.4(LMBR1):c.*1150A>G rs560435795 0.00118
NM_022458.4(LMBR1):c.*2477G>A rs151167124 0.00116
NM_022458.4(LMBR1):c.*1359G>A rs565001458 0.00115
NM_022458.4(LMBR1):c.*1061A>G rs138905233 0.00093
NM_022458.4(LMBR1):c.*2065A>G rs146931391 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) rs139646169 0.00069
NM_022458.4(LMBR1):c.*1469C>T rs184156281 0.00061
NM_022458.4(LMBR1):c.*2667A>T rs187134101 0.00037
NM_022458.4(LMBR1):c.*2761G>A rs182572414 0.00035
NM_022458.4(LMBR1):c.*1841T>A rs1012360796 0.00034
NM_022458.4(LMBR1):c.*2905T>A rs574914124 0.00025
NM_022458.4(LMBR1):c.*11C>T rs375283454 0.00024
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) rs201194692 0.00022
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) rs140722848 0.00015
NM_022458.4(LMBR1):c.*2500A>G rs566692462 0.00013
NM_022458.4(LMBR1):c.*728G>A rs886062116 0.00012
NM_022458.4(LMBR1):c.*2596A>G rs550168152 0.00011
NM_022458.4(LMBR1):c.-91C>G rs3735184 0.00011
NM_022458.4(LMBR1):c.432A>G (p.Arg144=) rs141871054 0.00011
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) rs367632078 0.00011
NM_022458.4(LMBR1):c.*2016C>T rs529448700 0.00010
NM_022458.4(LMBR1):c.*305G>A rs771023322 0.00010
NM_022458.4(LMBR1):c.*1470G>A rs549976103 0.00009
NM_022458.4(LMBR1):c.*1608C>T rs749633714 0.00009
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) rs182641358 0.00009
NM_022458.4(LMBR1):c.474G>A (p.Ala158=) rs201832150 0.00008
NM_022458.4(LMBR1):c.*1172C>T rs1163939803 0.00007
NM_022458.4(LMBR1):c.*2297C>T rs367713862 0.00007
NM_022458.4(LMBR1):c.*1358C>T rs150263103 0.00006
NM_022458.4(LMBR1):c.*2066G>C rs560208746 0.00006
NM_022458.4(LMBR1):c.*2706A>G rs775444879 0.00006
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) rs140247020 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_022458.4(LMBR1):c.*2088C>T rs185766032 0.00005
NM_022458.4(LMBR1):c.*2820G>A rs550075183 0.00005
NM_022458.4(LMBR1):c.*2020T>C rs567467797 0.00004
NM_022458.4(LMBR1):c.*2262G>A rs911647400 0.00004
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) rs568570543 0.00004
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_022458.4(LMBR1):c.*2147T>C rs1273499025 0.00003
NM_022458.4(LMBR1):c.*246G>A rs745661512 0.00003
NM_022458.4(LMBR1):c.*2798C>T rs746253016 0.00003
NM_022458.4(LMBR1):c.*3180A>C rs886062110 0.00003
NM_022458.4(LMBR1):c.*3187A>G rs866814626 0.00003
NM_022458.4(LMBR1):c.-158G>A rs886062123 0.00003
NM_022458.4(LMBR1):c.*1363G>T rs1032886313 0.00001
NM_022458.4(LMBR1):c.*1560T>A rs1307260930 0.00001
NM_022458.4(LMBR1):c.*245C>T rs1036026971 0.00001
NM_022458.4(LMBR1):c.*2658T>C rs1205792107 0.00001
NM_022458.4(LMBR1):c.*457C>G rs886062118 0.00001
NM_022458.4(LMBR1):c.-154G>A rs886062122 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_022458.4(LMBR1):c.1159-3C>T rs369446617 0.00001
NM_022458.4(LMBR1):c.165C>T (p.Ile55=) rs752415935 0.00001
NM_022458.4(LMBR1):c.423+4915C>T rs587779752 0.00001
NM_022458.4(LMBR1):c.435C>T (p.Ala145=) rs563054181 0.00001
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) rs148974610 0.00001
NM_022458.4(LMBR1):c.627A>G (p.Thr209=) rs1227969762 0.00001
46;XX;t(7;14)(p15;q24)dn
NC_000007.14:g.156791257G>A
NC_000007.14:g.156791542A>C rs606231231
NC_000007.14:g.156791548G>C
NC_000007.14:g.156791579C>T rs606231230
NM_022458.4(LMBR1):c.*1259C>T rs1180240267
NM_022458.4(LMBR1):c.*1347A>G rs1805281351
NM_022458.4(LMBR1):c.*1534A>G rs886062114
NM_022458.4(LMBR1):c.*166G>T rs886062119
NM_022458.4(LMBR1):c.*1862T>A rs886062113
NM_022458.4(LMBR1):c.*2080C>T rs970281844
NM_022458.4(LMBR1):c.*2198C>G rs116037533
NM_022458.4(LMBR1):c.*2451C>A rs1351176342
NM_022458.4(LMBR1):c.*2458A>G rs1805049784
NM_022458.4(LMBR1):c.*2519T>A rs772161675
NM_022458.4(LMBR1):c.*2744G>T rs886062112
NM_022458.4(LMBR1):c.*2771G>A rs756411300
NM_022458.4(LMBR1):c.*2773G>T rs886062111
NM_022458.4(LMBR1):c.*2899A>T rs748449219
NM_022458.4(LMBR1):c.*2948G>T rs777769323
NM_022458.4(LMBR1):c.*650A>G rs886062117
NM_022458.4(LMBR1):c.*916C>A rs182736380
NM_022458.4(LMBR1):c.-146C>T rs751044177
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) rs60299355
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) rs886062120
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) rs886062121
NM_022458.4(LMBR1):c.423+4618C>G rs606231146
NM_022458.4(LMBR1):c.423+4808T>C rs606231152
NM_022458.4(LMBR1):c.423+4818A>T rs606231148
NM_022458.4(LMBR1):c.423+4842T>C rs606231149
NM_022458.4(LMBR1):c.423+4909C>T rs606231153
NM_022458.4(LMBR1):c.423+4919A>G rs2133321113
NM_022458.4(LMBR1):c.423+5134C>G rs606231151
NM_022458.4(LMBR1):c.423+5252A>G rs606231150
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) rs756376000
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) rs1816107259

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