ClinVar Miner

List of variants studied for congenital myopathy by Mendelics

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_004168.4(SDHA):c.1908+90A>G rs6888536 0.25155
NM_004168.4(SDHA):c.1908+85G>A rs6864807 0.21789
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr) rs28763868 0.08132
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_001267550.2(TTN):c.-71G>A rs368880755 0.00006
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) rs777306884 0.00001
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys) rs1373237213 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NC_000002.11:g.238258810delG rs794729205
NC_000014.9:g.23415255_23415272del rs2138638795
NC_012920.1(MT-CYB):m.12258C>T rs118203888
NC_012920.1(MT-CYB):m.12264C>T rs1603223642
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.1630A>G rs1603218588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.1659T>C rs1603218609
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4296G>A rs1603219393
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp) rs964700696
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu) rs1585147708
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001843.4(CNTN1):c.1805-9354del rs544761896
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002693.3(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter) rs1430676547
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678
m.12207G>A rs118203889
m.1624C>T rs199476144
m.3242G>A rs193303018
m.3251A>G rs199474662
m.3271T>C rs199474658
m.3303C>T rs199474660
m.4284G>A rs121434468
m.4300A>G rs121434470
m.5521G>A rs199474673
m.5532G>A rs199474674
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100

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