ClinVar Miner

List of variants studied for congenital myopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) rs373135339 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter) rs887577241 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter) rs879110681 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.811+1G>A
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001164508.2(NEB):c.1035+1G>A
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.14827-2A>C
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter) rs867732907
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter) rs1559952676
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.21141del (p.Ile7047fs) rs2093339890
NM_001164508.2(NEB):c.21313-666A>G
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.2310+5G>A
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) rs2152822941
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.17303del (p.Asp5768fs)
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.32922_32923del (p.Thr10975fs)
NM_001267550.2(TTN):c.34411_34414del (p.Lys11471fs)
NM_001267550.2(TTN):c.36532+2T>G
NM_001267550.2(TTN):c.39709+1G>A
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter) rs2154198430
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)
NM_001267550.2(TTN):c.8255_8257delinsGG (p.Lys2752fs)
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) rs756020699
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.7668+1G>A
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs) rs1765881602
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_014049.5(ACAD9):c.1029+1dup rs2107657797
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser) rs777282696
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.634-1G>A
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.1384T>C
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) rs1174570887
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.9_33del (p.Ala4fs) rs886041619
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.7015del (p.Leu2339fs)
NM_178554.6(KY):c.481C>T (p.Gln161Ter)

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