ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant limb-girdle muscular dystrophy type 1F by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile) rs150330408 0.00009
NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys) rs148210365 0.00006
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln) rs144794750 0.00006
NM_012470.4(TNPO3):c.1367A>G (p.Asn456Ser) rs371704560 0.00005
NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys) rs781140128 0.00004
NM_012470.4(TNPO3):c.2597C>T (p.Pro866Leu) rs199600419 0.00004
NM_012470.4(TNPO3):c.2609G>A (p.Arg870Gln) rs188168905 0.00004
NM_012470.4(TNPO3):c.2662G>A (p.Val888Ile) rs765613943 0.00004
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) rs983345752 0.00003
NM_012470.4(TNPO3):c.1637G>A (p.Arg546His) rs143136370 0.00003
NM_012470.4(TNPO3):c.1840C>T (p.Arg614Cys) rs745908119 0.00003
NM_012470.4(TNPO3):c.2452C>T (p.Arg818Trp) rs570772653 0.00003
NM_012470.4(TNPO3):c.317C>T (p.Thr106Met) rs770038958 0.00003
NM_012470.4(TNPO3):c.574G>C (p.Gly192Arg) rs770701668 0.00003
NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) rs758997411 0.00002
NM_012470.4(TNPO3):c.1890G>C (p.Gln630His) rs773242792 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter) rs1801458570 0.00001
NM_012470.4(TNPO3):c.1072G>A (p.Asp358Asn) rs377543486 0.00001
NM_012470.4(TNPO3):c.11C>A (p.Ala4Glu) rs1563116600 0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NM_012470.4(TNPO3):c.1339A>G (p.Ile447Val) rs749570438 0.00001
NM_012470.4(TNPO3):c.1358+1G>A rs769542368 0.00001
NM_012470.4(TNPO3):c.1403G>A (p.Arg468His) rs534068313 0.00001
NM_012470.4(TNPO3):c.1498+3A>G rs936598968 0.00001
NM_012470.4(TNPO3):c.1514A>G (p.Tyr505Cys) rs1287148645 0.00001
NM_012470.4(TNPO3):c.1524A>G (p.Lys508=) rs1328898753 0.00001
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) rs755030982 0.00001
NM_012470.4(TNPO3):c.1567A>C (p.Ile523Leu) rs1385684585 0.00001
NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu) rs750192462 0.00001
NM_012470.4(TNPO3):c.1640C>G (p.Ser547Cys) rs1800202347 0.00001
NM_012470.4(TNPO3):c.1712G>A (p.Arg571Gln) rs376932742 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.1814C>G (p.Ser605Cys) rs775917042 0.00001
NM_012470.4(TNPO3):c.1873A>G (p.Ile625Val) rs1480719788 0.00001
NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr) rs200950202 0.00001
NM_012470.4(TNPO3):c.1927C>T (p.Pro643Ser) rs1400881026 0.00001
NM_012470.4(TNPO3):c.1958G>A (p.Arg653Gln) rs766916784 0.00001
NM_012470.4(TNPO3):c.1961C>T (p.Ala654Val) rs760634627 0.00001
NM_012470.4(TNPO3):c.2152C>T (p.Arg718Trp) rs771596630 0.00001
NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly) rs781724504 0.00001
NM_012470.4(TNPO3):c.2186G>C (p.Cys729Ser) rs757809379 0.00001
NM_012470.4(TNPO3):c.2324C>G (p.Pro775Arg) rs1213604486 0.00001
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) rs1339666918 0.00001
NM_012470.4(TNPO3):c.2426A>G (p.Asn809Ser) rs1002747651 0.00001
NM_012470.4(TNPO3):c.2519C>A (p.Thr840Asn) rs1344658136 0.00001
NM_012470.4(TNPO3):c.2539C>G (p.Pro847Ala) rs774723247 0.00001
NM_012470.4(TNPO3):c.2572T>C (p.Trp858Arg) rs886044413 0.00001
NM_012470.4(TNPO3):c.2598G>A (p.Pro866=) rs758404751 0.00001
NM_012470.4(TNPO3):c.259C>T (p.Arg87Trp) rs760724185 0.00001
NM_012470.4(TNPO3):c.2611T>C (p.Trp871Arg) rs886044218 0.00001
NM_012470.4(TNPO3):c.2633G>T (p.Gly878Val) rs1214636778 0.00001
NM_012470.4(TNPO3):c.2653G>A (p.Val885Met) rs545012511 0.00001
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln) rs750548861 0.00001
NM_012470.4(TNPO3):c.390G>A (p.Val130=) rs1263633916 0.00001
NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu) rs1249604129 0.00001
NM_012470.4(TNPO3):c.608G>A (p.Arg203His) rs977205285 0.00001
NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu) rs748952773 0.00001
NM_012470.4(TNPO3):c.873-3C>T rs780935123 0.00001
NM_012470.4(TNPO3):c.952C>G (p.Leu318Val) rs762053595 0.00001
NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter) rs751304152 0.00001
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp) rs1415790123 0.00001
NC_000007.13:g.(?_128470692)_(128694824_?)dup
NC_000007.13:g.(?_128637433)_(128694824_?)del
NM_012470.4(TNPO3):c.1011+3A>G
NM_012470.4(TNPO3):c.1011+4G>A
NM_012470.4(TNPO3):c.1012-2A>G
NM_012470.4(TNPO3):c.104G>A (p.Gly35Glu) rs746657043
NM_012470.4(TNPO3):c.1069A>G (p.Asn357Asp)
NM_012470.4(TNPO3):c.1073A>G (p.Asp358Gly) rs2150368323
NM_012470.4(TNPO3):c.1088G>A (p.Gly363Asp)
NM_012470.4(TNPO3):c.1100C>A (p.Ala367Asp)
NM_012470.4(TNPO3):c.1112G>A (p.Arg371Lys)
NM_012470.4(TNPO3):c.1150C>T (p.Pro384Ser)
NM_012470.4(TNPO3):c.1153G>T (p.Asp385Tyr) rs2150368155
NM_012470.4(TNPO3):c.1157A>G (p.His386Arg)
NM_012470.4(TNPO3):c.1159-3T>C rs2150358752
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
NM_012470.4(TNPO3):c.1199G>A (p.Arg400His)
NM_012470.4(TNPO3):c.1201A>G (p.Met401Val)
NM_012470.4(TNPO3):c.1216C>G (p.Leu406Val) rs1585340363
NM_012470.4(TNPO3):c.1241T>C (p.Ile414Thr) rs1554438690
NM_012470.4(TNPO3):c.1256G>A (p.Cys419Tyr) rs1554438680
NM_012470.4(TNPO3):c.1256_1257insA (p.Cys419Ter)
NM_012470.4(TNPO3):c.1265A>G (p.Gln422Arg)
NM_012470.4(TNPO3):c.1270T>A (p.Tyr424Asn) rs758068778
NM_012470.4(TNPO3):c.1276A>G (p.Thr426Ala) rs2150354070
NM_012470.4(TNPO3):c.1298C>T (p.Pro433Leu)
NM_012470.4(TNPO3):c.1306G>T (p.Val436Leu)
NM_012470.4(TNPO3):c.1314A>C (p.Glu438Asp)
NM_012470.4(TNPO3):c.1330A>G (p.Met444Val)
NM_012470.4(TNPO3):c.1358+12A>G
NM_012470.4(TNPO3):c.1369C>T (p.Pro457Ser) rs1585338002
NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) rs137891112
NM_012470.4(TNPO3):c.1484A>C (p.Asn495Thr)
NM_012470.4(TNPO3):c.1495C>T (p.Leu499Phe)
NM_012470.4(TNPO3):c.1499-3T>C
NM_012470.4(TNPO3):c.1502C>G (p.Pro501Arg)
NM_012470.4(TNPO3):c.1510G>T (p.Gly504Cys) rs2150339692
NM_012470.4(TNPO3):c.1511G>C (p.Gly504Ala)
NM_012470.4(TNPO3):c.1521G>T (p.Met507Ile) rs1554437833
NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro)
NM_012470.4(TNPO3):c.1562A>C (p.Lys521Thr)
NM_012470.4(TNPO3):c.1574A>G (p.Asn525Ser)
NM_012470.4(TNPO3):c.1579T>C (p.Cys527Arg) rs2150339499
NM_012470.4(TNPO3):c.1591C>T (p.Arg531Ter)
NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln)
NM_012470.4(TNPO3):c.1607A>C (p.Gln536Pro) rs886043969
NM_012470.4(TNPO3):c.1609C>A (p.His537Asn) rs2150339414
NM_012470.4(TNPO3):c.1611C>G (p.His537Gln)
NM_012470.4(TNPO3):c.161G>A (p.Arg54Gln)
NM_012470.4(TNPO3):c.1628_1629insT (p.Glu543fs)
NM_012470.4(TNPO3):c.1717C>T (p.Pro573Ser) rs2150331967
NM_012470.4(TNPO3):c.1718C>A (p.Pro573His)
NM_012470.4(TNPO3):c.1723G>T (p.Asp575Tyr) rs2150331941
NM_012470.4(TNPO3):c.1724A>G (p.Asp575Gly) rs996597469
NM_012470.4(TNPO3):c.1777A>G (p.Lys593Glu) rs1009156162
NM_012470.4(TNPO3):c.1782G>A (p.Lys594=) rs886044359
NM_012470.4(TNPO3):c.1798C>T (p.Pro600Ser)
NM_012470.4(TNPO3):c.1805A>T (p.Asn602Ile)
NM_012470.4(TNPO3):c.182A>G (p.Tyr61Cys) rs1804048768
NM_012470.4(TNPO3):c.1832T>G (p.Phe611Cys)
NM_012470.4(TNPO3):c.1833C>G (p.Phe611Leu)
NM_012470.4(TNPO3):c.1859+15_1859+16delinsAA
NM_012470.4(TNPO3):c.185T>G (p.Phe62Cys)
NM_012470.4(TNPO3):c.1860-20G>A
NM_012470.4(TNPO3):c.1865C>T (p.Thr622Ile)
NM_012470.4(TNPO3):c.1892C>T (p.Thr631Ile)
NM_012470.4(TNPO3):c.1901G>A (p.Cys634Tyr)
NM_012470.4(TNPO3):c.1906A>G (p.Lys636Glu) rs2129004629
NM_012470.4(TNPO3):c.1933T>G (p.Leu645Val) rs1799377598
NM_012470.4(TNPO3):c.1936T>C (p.Ser646Pro) rs2129003718
NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu)
NM_012470.4(TNPO3):c.2007dup (p.Val670fs) rs1799368672
NM_012470.4(TNPO3):c.2011C>T (p.Arg671Cys)
NM_012470.4(TNPO3):c.2015G>T (p.Cys672Phe) rs779786988
NM_012470.4(TNPO3):c.2046G>T (p.Gln682His)
NM_012470.4(TNPO3):c.2071G>A (p.Val691Met) rs1203231715
NM_012470.4(TNPO3):c.2153G>A (p.Arg718Gln)
NM_012470.4(TNPO3):c.2177A>T (p.Gln726Leu)
NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) rs1798907371
NM_012470.4(TNPO3):c.2222G>A (p.Gly741Asp) rs1179797056
NM_012470.4(TNPO3):c.2228A>G (p.Gln743Arg)
NM_012470.4(TNPO3):c.2276T>G (p.Phe759Cys) rs2128995402
NM_012470.4(TNPO3):c.2280T>G (p.Ile760Met)
NM_012470.4(TNPO3):c.2284C>T (p.Arg762Cys)
NM_012470.4(TNPO3):c.2285G>A (p.Arg762His)
NM_012470.4(TNPO3):c.232C>G (p.Leu78Val) rs1554441599
NM_012470.4(TNPO3):c.2359G>A (p.Asp787Asn)
NM_012470.4(TNPO3):c.2383G>T (p.Val795Phe)
NM_012470.4(TNPO3):c.2404C>G (p.Leu802Val)
NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)
NM_012470.4(TNPO3):c.2453G>A (p.Arg818Gln)
NM_012470.4(TNPO3):c.2489G>C (p.Gly830Ala)
NM_012470.4(TNPO3):c.2503A>G (p.Ser835Gly)
NM_012470.4(TNPO3):c.250G>A (p.Ala84Thr) rs766350344
NM_012470.4(TNPO3):c.2534T>G (p.Leu845Arg) rs1225457720
NM_012470.4(TNPO3):c.2540C>A (p.Pro847His)
NM_012470.4(TNPO3):c.2540C>G (p.Pro847Arg) rs1193471279
NM_012470.4(TNPO3):c.2541del (p.Tyr848fs)
NM_012470.4(TNPO3):c.2543A>G (p.Tyr848Cys) rs1554435157
NM_012470.4(TNPO3):c.2590G>A (p.Asp864Asn) rs1585324543
NM_012470.4(TNPO3):c.2599-3_2599-2del rs2128988537
NM_012470.4(TNPO3):c.2653G>T (p.Val885Leu)
NM_012470.4(TNPO3):c.2666C>G (p.Thr889Arg) rs1798016883
NM_012470.4(TNPO3):c.2674C>A (p.His892Asn) rs1798015777
NM_012470.4(TNPO3):c.2674C>T (p.His892Tyr) rs1798015777
NM_012470.4(TNPO3):c.2677A>C (p.Lys893Gln) rs2128988428
NM_012470.4(TNPO3):c.2751C>A (p.Asp917Glu)
NM_012470.4(TNPO3):c.2754del (p.Phe918fs)
NM_012470.4(TNPO3):c.2765T>C (p.Phe922Ser)
NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs) rs2128974604
NM_012470.4(TNPO3):c.28C>T (p.Leu10Phe) rs1554445896
NM_012470.4(TNPO3):c.307G>A (p.Val103Ile)
NM_012470.4(TNPO3):c.308T>C (p.Val103Ala) rs1804036136
NM_012470.4(TNPO3):c.320A>G (p.Gln107Arg) rs1804034381
NM_012470.4(TNPO3):c.321+4A>G
NM_012470.4(TNPO3):c.342T>A (p.Asp114Glu) rs2150433664
NM_012470.4(TNPO3):c.359C>T (p.Pro120Leu) rs567680509
NM_012470.4(TNPO3):c.368del (p.Lys123fs) rs2150433570
NM_012470.4(TNPO3):c.371G>T (p.Gly124Val)
NM_012470.4(TNPO3):c.381A>C (p.Gln127His) rs1803924867
NM_012470.4(TNPO3):c.388G>T (p.Val130Leu)
NM_012470.4(TNPO3):c.496C>T (p.Arg166Cys) rs1423454696
NM_012470.4(TNPO3):c.497G>A (p.Arg166His) rs1385305064
NM_012470.4(TNPO3):c.523_524delinsGC (p.Phe175Ala)
NM_012470.4(TNPO3):c.53T>C (p.Leu18Pro)
NM_012470.4(TNPO3):c.541G>A (p.Val181Ile)
NM_012470.4(TNPO3):c.551T>G (p.Leu184Trp)
NM_012470.4(TNPO3):c.552+4A>C
NM_012470.4(TNPO3):c.552+6T>A rs373527589
NM_012470.4(TNPO3):c.559T>G (p.Cys187Gly) rs2150392832
NM_012470.4(TNPO3):c.582T>A (p.Asp194Glu) rs148885407
NM_012470.4(TNPO3):c.592C>T (p.Leu198Phe)
NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)
NM_012470.4(TNPO3):c.632T>G (p.Leu211Trp)
NM_012470.4(TNPO3):c.635G>T (p.Gly212Val)
NM_012470.4(TNPO3):c.64C>G (p.Pro22Ala) rs1809272125
NM_012470.4(TNPO3):c.655A>G (p.Met219Val)
NM_012470.4(TNPO3):c.676G>A (p.Ala226Thr)
NM_012470.4(TNPO3):c.697-4_697-3delinsGA rs1801916406
NM_012470.4(TNPO3):c.70C>T (p.Pro24Ser) rs1408084010
NM_012470.4(TNPO3):c.733G>T (p.Ala245Ser)
NM_012470.4(TNPO3):c.737C>T (p.Ser246Leu)
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)
NM_012470.4(TNPO3):c.766A>G (p.Ile256Val) rs1801906733
NM_012470.4(TNPO3):c.76G>A (p.Gly26Arg) rs2150586075
NM_012470.4(TNPO3):c.76G>T (p.Gly26Ter)
NM_012470.4(TNPO3):c.776T>C (p.Val259Ala)
NM_012470.4(TNPO3):c.796G>A (p.Ala266Thr) rs2150379239
NM_012470.4(TNPO3):c.803A>G (p.Gln268Arg) rs538337275
NM_012470.4(TNPO3):c.804A>C (p.Gln268His)
NM_012470.4(TNPO3):c.812A>G (p.Gln271Arg)
NM_012470.4(TNPO3):c.827T>G (p.Leu276Trp) rs1801898949
NM_012470.4(TNPO3):c.82G>A (p.Glu28Lys)
NM_012470.4(TNPO3):c.838T>A (p.Tyr280Asn)
NM_012470.4(TNPO3):c.839A>G (p.Tyr280Cys)
NM_012470.4(TNPO3):c.893T>C (p.Ile298Thr)
NM_012470.4(TNPO3):c.927A>C (p.Lys309Asn)
NM_012470.4(TNPO3):c.934T>C (p.Cys312Arg)
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) rs1801818228
NM_012470.4(TNPO3):c.996C>T (p.Gly332=) rs1554439603

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