ClinVar Miner

List of variants in gene TMTC3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181783.4(TMTC3):c.-28-145C>T rs2468227 0.92722
NM_181783.4(TMTC3):c.797+117A>C rs2471545 0.76145
NM_181783.4(TMTC3):c.190-86A>G rs2468229 0.49834
NM_181783.4(TMTC3):c.1321-102C>T rs7302193 0.13678
NM_181783.4(TMTC3):c.1433-17T>G rs12296370 0.12346
NM_181783.4(TMTC3):c.1051-40A>T rs11104747 0.07600
NM_181783.4(TMTC3):c.1933+150A>G rs11104755 0.07529
NM_181783.4(TMTC3):c.409-57A>G rs12321595 0.07526
NM_181783.4(TMTC3):c.509-196A>C rs6538130 0.07512
NM_181783.4(TMTC3):c.2575G>A (p.Val859Ile) rs34623199 0.02280
NM_181783.4(TMTC3):c.2426G>A (p.Arg809His) rs111307435 0.01003
NM_181783.4(TMTC3):c.1515G>A (p.Met505Ile) rs79854597 0.00462
NM_181783.4(TMTC3):c.477T>C (p.Tyr159=) rs117274752 0.00199
NM_181783.4(TMTC3):c.335A>G (p.Lys112Arg) rs77028313 0.00153
NM_181783.4(TMTC3):c.541G>A (p.Val181Met) rs141504732 0.00103
NM_181783.4(TMTC3):c.2552G>A (p.Gly851Asp) rs138778751 0.00099
NM_181783.4(TMTC3):c.1433-3T>C rs201431220 0.00049
NM_181783.4(TMTC3):c.59A>G (p.Tyr20Cys) rs140803138 0.00030
NM_181783.4(TMTC3):c.1664C>T (p.Ala555Val) rs151189566 0.00024
NM_181783.4(TMTC3):c.870T>C (p.Asn290=) rs139374194 0.00021
NM_181783.4(TMTC3):c.570A>G (p.Gln190=) rs202156827 0.00018
NM_181783.4(TMTC3):c.825A>G (p.Pro275=) rs139775413 0.00011
NM_181783.4(TMTC3):c.311G>C (p.Ser104Thr) rs150142881 0.00008
NM_181783.4(TMTC3):c.337C>G (p.Leu113Val) rs78527125 0.00008
NM_181783.4(TMTC3):c.10A>G (p.Ile4Val) rs146954242 0.00006
NM_181783.4(TMTC3):c.1689G>A (p.Lys563=) rs753536870 0.00006
NM_181783.4(TMTC3):c.596G>A (p.Cys199Tyr) rs191776727 0.00006
NM_181783.4(TMTC3):c.1851A>G (p.Leu617=) rs201531208 0.00005
NM_181783.4(TMTC3):c.190-15G>A rs376826681 0.00004
NM_181783.4(TMTC3):c.2097C>T (p.Ala699=) rs201509383 0.00004
NM_181783.4(TMTC3):c.2160G>A (p.Lys720=) rs200548133 0.00004
NM_181783.4(TMTC3):c.1681G>A (p.Asp561Asn) rs760401701 0.00003
NM_181783.4(TMTC3):c.2335G>A (p.Val779Ile) rs767559568 0.00003
NM_181783.4(TMTC3):c.1470T>C (p.Tyr490=) rs754809573 0.00002
NM_181783.4(TMTC3):c.2272A>G (p.Lys758Glu) rs1303200193 0.00002
NM_181783.4(TMTC3):c.2333G>A (p.Cys778Tyr) rs1465073820 0.00002
NM_181783.4(TMTC3):c.2607A>G (p.Lys869=) rs772213934 0.00002
NM_181783.4(TMTC3):c.324C>T (p.Leu108=) rs138626268 0.00002
NM_181783.4(TMTC3):c.716T>C (p.Leu239Pro) rs780546810 0.00002
NM_181783.4(TMTC3):c.1707A>G (p.Arg569=) rs1295496575 0.00001
NM_181783.4(TMTC3):c.2124G>C (p.Leu708=) rs764693011 0.00001
NM_181783.4(TMTC3):c.2170A>G (p.Ile724Val) rs766539256 0.00001
NM_181783.4(TMTC3):c.2253A>G (p.Lys751=) rs933216817 0.00001
NM_181783.4(TMTC3):c.235C>T (p.Arg79Cys) rs768991210 0.00001
NM_181783.4(TMTC3):c.2502A>T (p.Ser834=) rs751208352 0.00001
NM_181783.4(TMTC3):c.508+19del rs758166161 0.00001
NM_181783.4(TMTC3):c.509-6T>C rs375722916 0.00001
NM_181783.4(TMTC3):c.955C>T (p.Arg319Ter) rs768546704 0.00001
NC_000012.12:g.88192603GAG[1]
NM_181783.4(TMTC3):c.1015A>G (p.Arg339Gly)
NM_181783.4(TMTC3):c.1020C>T (p.Tyr340=)
NM_181783.4(TMTC3):c.1051-14T>C
NM_181783.4(TMTC3):c.1051-16_1051-14del
NM_181783.4(TMTC3):c.1051-3T>C
NM_181783.4(TMTC3):c.1051-5del rs374120006
NM_181783.4(TMTC3):c.1051-5dup rs374120006
NM_181783.4(TMTC3):c.1051-6_1051-5dup
NM_181783.4(TMTC3):c.1082C>T (p.Pro361Leu)
NM_181783.4(TMTC3):c.1086A>G (p.Ala362=) rs764615630
NM_181783.4(TMTC3):c.1125G>A (p.Glu375=) rs2138407176
NM_181783.4(TMTC3):c.1127G>A (p.Arg376Gln)
NM_181783.4(TMTC3):c.112G>C (p.Asp38His)
NM_181783.4(TMTC3):c.1134A>G (p.Leu378=)
NM_181783.4(TMTC3):c.1138G>A (p.Val380Ile)
NM_181783.4(TMTC3):c.1172A>G (p.His391Arg)
NM_181783.4(TMTC3):c.1186A>G (p.Ile396Val)
NM_181783.4(TMTC3):c.1221G>A (p.Trp407Ter)
NM_181783.4(TMTC3):c.1234A>G (p.Met412Val) rs546211027
NM_181783.4(TMTC3):c.1237G>A (p.Val413Met)
NM_181783.4(TMTC3):c.1279G>T (p.Asp427Tyr)
NM_181783.4(TMTC3):c.1321-9G>A
NM_181783.4(TMTC3):c.1349_1350delinsCC (p.Asn450Thr)
NM_181783.4(TMTC3):c.1388A>C (p.Glu463Ala)
NM_181783.4(TMTC3):c.1410A>G (p.Leu470=)
NM_181783.4(TMTC3):c.1423G>C (p.Val475Leu)
NM_181783.4(TMTC3):c.1433-12T>C
NM_181783.4(TMTC3):c.1433-8A>T
NM_181783.4(TMTC3):c.1554del (p.Lys518fs) rs746894544
NM_181783.4(TMTC3):c.15C>T (p.Asn5=) rs1592720758
NM_181783.4(TMTC3):c.1605T>A (p.Ala535=)
NM_181783.4(TMTC3):c.1606A>T (p.Asn536Tyr) rs2041430162
NM_181783.4(TMTC3):c.1619C>A (p.Ala540Glu)
NM_181783.4(TMTC3):c.1631G>A (p.Arg544Gln)
NM_181783.4(TMTC3):c.1646A>G (p.Asp549Gly)
NM_181783.4(TMTC3):c.1657C>T (p.Arg553Cys)
NM_181783.4(TMTC3):c.1680C>T (p.Pro560=)
NM_181783.4(TMTC3):c.1706+14A>G
NM_181783.4(TMTC3):c.173G>T (p.Gly58Val)
NM_181783.4(TMTC3):c.1795C>A (p.Leu599Ile) rs1259312415
NM_181783.4(TMTC3):c.1841A>G (p.Asn614Ser)
NM_181783.4(TMTC3):c.1865G>A (p.Arg622His)
NM_181783.4(TMTC3):c.189+5G>C
NM_181783.4(TMTC3):c.190-16C>T
NM_181783.4(TMTC3):c.1933+12C>G
NM_181783.4(TMTC3):c.1934-5T>C
NM_181783.4(TMTC3):c.1934-5del
NM_181783.4(TMTC3):c.1934G>A (p.Gly645Asp)
NM_181783.4(TMTC3):c.195A>G (p.Arg65=)
NM_181783.4(TMTC3):c.1966C>T (p.Arg656Ter) rs2041490074
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_181783.4(TMTC3):c.2014T>C (p.Phe672Leu)
NM_181783.4(TMTC3):c.2083A>G (p.Ile695Val)
NM_181783.4(TMTC3):c.2098G>A (p.Asp700Asn) rs1332461696
NM_181783.4(TMTC3):c.2175G>A (p.Leu725=)
NM_181783.4(TMTC3):c.2181G>C (p.Glu727Asp)
NM_181783.4(TMTC3):c.2203C>A (p.His735Asn) rs757070278
NM_181783.4(TMTC3):c.2282A>T (p.Glu761Val)
NM_181783.4(TMTC3):c.2292G>A (p.Leu764=) rs2138449595
NM_181783.4(TMTC3):c.2306G>A (p.Ser769Asn)
NM_181783.4(TMTC3):c.2392C>T (p.Leu798=)
NM_181783.4(TMTC3):c.2406A>G (p.Pro802=)
NM_181783.4(TMTC3):c.2418T>C (p.Tyr806=)
NM_181783.4(TMTC3):c.2447A>G (p.Asp816Gly)
NM_181783.4(TMTC3):c.2460A>G (p.Ser820=)
NM_181783.4(TMTC3):c.2511A>G (p.Glu837=)
NM_181783.4(TMTC3):c.2565A>G (p.Gln855=)
NM_181783.4(TMTC3):c.2566A>T (p.Thr856Ser)
NM_181783.4(TMTC3):c.2588A>C (p.Asp863Ala) rs2138450398
NM_181783.4(TMTC3):c.2637C>T (p.Asp879=)
NM_181783.4(TMTC3):c.2664A>G (p.Lys888=)
NM_181783.4(TMTC3):c.2671A>G (p.Lys891Glu)
NM_181783.4(TMTC3):c.2687_2691del (p.Lys896fs) rs747901806
NM_181783.4(TMTC3):c.2712A>G (p.Leu904=) rs775579103
NM_181783.4(TMTC3):c.316A>G (p.Ile106Val) rs2138367498
NM_181783.4(TMTC3):c.322C>T (p.Leu108Phe)
NM_181783.4(TMTC3):c.330A>T (p.Val110=) rs141872788
NM_181783.4(TMTC3):c.360T>C (p.Ser120=)
NM_181783.4(TMTC3):c.384A>G (p.Ala128=)
NM_181783.4(TMTC3):c.399= (p.His133=)
NM_181783.4(TMTC3):c.399C>T (p.His133=)
NM_181783.4(TMTC3):c.408+14T>C
NM_181783.4(TMTC3):c.408+14_408+17del
NM_181783.4(TMTC3):c.408+17A>G
NM_181783.4(TMTC3):c.408+19dup
NM_181783.4(TMTC3):c.441G>A (p.Leu147=) rs146077935
NM_181783.4(TMTC3):c.446C>G (p.Ser149Cys)
NM_181783.4(TMTC3):c.448A>G (p.Ile150Val)
NM_181783.4(TMTC3):c.508+14A>T
NM_181783.4(TMTC3):c.508+28del rs751823665
NM_181783.4(TMTC3):c.509-10C>T rs2138381204
NM_181783.4(TMTC3):c.509-15G>T
NM_181783.4(TMTC3):c.510A>G (p.Ile170Met)
NM_181783.4(TMTC3):c.624+12T>C
NM_181783.4(TMTC3):c.624+20T>C
NM_181783.4(TMTC3):c.624+5G>A rs2138381465
NM_181783.4(TMTC3):c.625-18A>C
NM_181783.4(TMTC3):c.625-9_625-5del
NM_181783.4(TMTC3):c.636A>G (p.Pro212=)
NM_181783.4(TMTC3):c.693T>C (p.Ser231=)
NM_181783.4(TMTC3):c.697C>T (p.Leu233=)
NM_181783.4(TMTC3):c.747TGT[1] (p.Val251del) rs771461068
NM_181783.4(TMTC3):c.749T>C (p.Val250Ala)
NM_181783.4(TMTC3):c.774A>G (p.Gln258=)
NM_181783.4(TMTC3):c.777C>G (p.Ser259=)
NM_181783.4(TMTC3):c.786A>G (p.Pro262=)
NM_181783.4(TMTC3):c.797+14G>A
NM_181783.4(TMTC3):c.797+9T>C
NM_181783.4(TMTC3):c.832A>T (p.Thr278Ser)
NM_181783.4(TMTC3):c.851A>G (p.Asn284Ser)
NM_181783.4(TMTC3):c.872_875dup (p.Trp292fs)
NM_181783.4(TMTC3):c.895G>C (p.Glu299Gln)
NM_181783.4(TMTC3):c.89T>C (p.Phe30Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.