ClinVar Miner

List of variants studied for congenital myopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_017534.6(MYH2):c.5192A>G (p.Asn1731Ser) rs776712165 0.00001
NC_012920.1(MT-ND1):m.1616A>G rs2124591018
NC_012920.1(MT-ND5):m.12425del rs1603223730
NM_000252.3(MTM1):c.1053+5G>T rs1557414132
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) rs1892274161
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) rs1892176969
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys) rs748748397
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del) rs1176364208
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter) rs1489832770
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser) rs2093121464
NM_001267550.2(TTN):c.28383del (p.Gly9462fs) rs2154295037
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter) rs2056671421
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter) rs1160660090
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu) rs2050031384
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs) rs1702181550
NM_001267550.2(TTN):c.96464del (p.Val32155fs) rs2154143564
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) rs1555165594
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys) rs2077868316
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_020451.3(SELENON):c.1282-13G>A
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) rs1382829987
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu) rs1030128563
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del
m.3946G>A rs199476123
m.5521G>A rs199474673
m.8344A>G rs118192098

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