ClinVar Miner

List of variants in gene TMPO reported as likely benign for hereditary disorder of connective tissue

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00068
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001032283.3(TMPO):c.565+1750C>G rs142981381 0.00038
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_001032283.3(TMPO):c.565+1748T>A rs138388686 0.00025
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001032283.3(TMPO):c.565+1472G>A rs375628010 0.00007
NM_001032283.3(TMPO):c.565+1709T>C rs374855899 0.00006
NM_001032283.3(TMPO):c.13C>T (p.Leu5=) rs149067616 0.00005
NM_001032283.3(TMPO):c.565+1413A>G rs57670957 0.00005
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001032283.3(TMPO):c.565+1277G>A rs766680788 0.00004
NM_001032283.3(TMPO):c.565+1304T>A rs142500409 0.00004
NM_001032283.3(TMPO):c.565+1574G>A rs756784841 0.00004
NM_001032283.3(TMPO):c.565+1958G>T rs143845319 0.00004
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 0.00003
NM_001032283.3(TMPO):c.565+1287A>G rs534940271 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001032283.3(TMPO):c.565+1616T>C rs147635314 0.00003
NM_001032283.3(TMPO):c.565+1982A>C rs766190912 0.00003
NM_001032283.3(TMPO):c.565+2504G>A rs145677259 0.00003
NM_001032283.3(TMPO):c.153G>A (p.Pro51=) rs755323971 0.00002
NM_001032283.3(TMPO):c.51G>A (p.Lys17=) rs766680931 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001032283.3(TMPO):c.565+2150A>G rs200856956 0.00002
NM_001032283.3(TMPO):c.183G>A (p.Gly61=) rs780119963 0.00001
NM_001032283.3(TMPO):c.328C>T (p.Leu110=) rs1302280025 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1103C>T rs188308994 0.00001
NM_001032283.3(TMPO):c.565+1346T>G rs774747367 0.00001
NM_001032283.3(TMPO):c.565+1409C>T rs371441559 0.00001
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 0.00001
NM_001032283.3(TMPO):c.565+1499A>G rs776923796 0.00001
NM_001032283.3(TMPO):c.565+1532G>A rs1336852045 0.00001
NM_001032283.3(TMPO):c.565+1559T>C rs760459470 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001032283.3(TMPO):c.565+1979T>C rs777452560 0.00001
NM_001032283.3(TMPO):c.565+1997G>A rs375056835 0.00001
NM_001032283.3(TMPO):c.565+2081A>G rs760171602 0.00001
NM_001032283.3(TMPO):c.565+2273G>A rs977042843 0.00001
NM_001032283.3(TMPO):c.565+2399T>A rs576517565 0.00001
NM_001032283.3(TMPO):c.565+8T>C rs545742855 0.00001
NM_001032283.3(TMPO):c.72T>C (p.Asn24=) rs201960762 0.00001
NM_001032283.3(TMPO):c.84G>A (p.Pro28=) rs199549942 0.00001
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) rs1299226116
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
NM_001032283.3(TMPO):c.189G>A (p.Pro63=)
NM_001032283.3(TMPO):c.27G>C (p.Ser9=)
NM_001032283.3(TMPO):c.280-13A>G
NM_001032283.3(TMPO):c.280-13A>T
NM_001032283.3(TMPO):c.280-18A>G
NM_001032283.3(TMPO):c.280-4A>G
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
NM_001032283.3(TMPO):c.351T>C (p.Asn117=)
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu) rs765524061
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
NM_001032283.3(TMPO):c.381C>T (p.Tyr127=)
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
NM_001032283.3(TMPO):c.407-17G>C
NM_001032283.3(TMPO):c.407-4C>T
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
NM_001032283.3(TMPO):c.441G>A (p.Leu147=) rs2121195450
NM_001032283.3(TMPO):c.462A>G (p.Thr154=) rs2121195654
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
NM_001032283.3(TMPO):c.48G>A (p.Leu16=) rs2121092959
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
NM_001032283.3(TMPO):c.565+1007A>G
NM_001032283.3(TMPO):c.565+1019T>C
NM_001032283.3(TMPO):c.565+1106C>A rs757659026
NM_001032283.3(TMPO):c.565+1127C>G rs777779709
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1154T>C
NM_001032283.3(TMPO):c.565+1199C>T rs2121203040
NM_001032283.3(TMPO):c.565+1220G>A
NM_001032283.3(TMPO):c.565+1319C>T rs780889526
NM_001032283.3(TMPO):c.565+1334C>T
NM_001032283.3(TMPO):c.565+1382C>T rs2121204053
NM_001032283.3(TMPO):c.565+1448G>A rs1877328100
NM_001032283.3(TMPO):c.565+1532G>T
NM_001032283.3(TMPO):c.565+15G>T
NM_001032283.3(TMPO):c.565+1613C>T
NM_001032283.3(TMPO):c.565+1637A>G
NM_001032283.3(TMPO):c.565+1688G>T rs577869374
NM_001032283.3(TMPO):c.565+1781C>T
NM_001032283.3(TMPO):c.565+1808T>C
NM_001032283.3(TMPO):c.565+1814C>G
NM_001032283.3(TMPO):c.565+1817T>C
NM_001032283.3(TMPO):c.565+1826C>T
NM_001032283.3(TMPO):c.565+1880C>A rs1351997207
NM_001032283.3(TMPO):c.565+1956C>T
NM_001032283.3(TMPO):c.565+1958G>A
NM_001032283.3(TMPO):c.565+1964A>C
NM_001032283.3(TMPO):c.565+19T>C
NM_001032283.3(TMPO):c.565+2069A>G
NM_001032283.3(TMPO):c.565+2099T>C
NM_001032283.3(TMPO):c.565+2135A>G rs1284474609
NM_001032283.3(TMPO):c.565+2180C>T
NM_001032283.3(TMPO):c.565+2192G>A
NM_001032283.3(TMPO):c.565+2210T>C
NM_001032283.3(TMPO):c.565+2219T>G
NM_001032283.3(TMPO):c.565+2222A>C
NM_001032283.3(TMPO):c.565+2261G>A rs373227285
NM_001032283.3(TMPO):c.565+2261G>C
NM_001032283.3(TMPO):c.565+2261G>T rs373227285
NM_001032283.3(TMPO):c.565+2271C>T
NM_001032283.3(TMPO):c.565+2297A>G
NM_001032283.3(TMPO):c.565+2300T>C
NM_001032283.3(TMPO):c.565+2315A>G
NM_001032283.3(TMPO):c.565+2324A>G
NM_001032283.3(TMPO):c.565+2339C>G rs749772850
NM_001032283.3(TMPO):c.565+2357C>T
NM_001032283.3(TMPO):c.565+2402T>C rs1592947011
NM_001032283.3(TMPO):c.565+2421C>T rs2121211142
NM_001032283.3(TMPO):c.565+2426T>C rs1877426910
NM_001032283.3(TMPO):c.565+981A>G rs886049911
NM_001032283.3(TMPO):c.565+9T>G
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
NM_001032283.3(TMPO):c.66C>T (p.Ala22=) rs1875748424

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