ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (291):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
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_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_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_017534.6(MYH2):c.5192A>G (p.Asn1731Ser) rs776712165 0.00001
NC_012920.1(MT-ND1):m.1616A>G rs2124591018
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.7880T>G (p.Val2627Gly) rs747337318
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
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.49621G>T (p.Glu16541Ter) rs2056671421
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter) rs1160660090
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu) rs2050031384
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) rs1555165594
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
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_020451.3(SELENON):c.1282-13G>A
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu) rs1030128563
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del

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