ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
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_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) rs371592971 0.00001
NM_001382567.1(STIM1):c.2124A>T (p.Lys708Asn) rs1346205421 0.00001
NM_001458.5(FLNC):c.6361G>A (p.Gly2121Arg) rs1328507446 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_007215.4(POLG2):c.367G>A (p.Glu123Lys) rs377428467 0.00001
NM_058246.4(DNAJB6):c.347-3569A>G rs1800598055 0.00001
NM_000117.3(EMD):c.82+1G>A rs1557182214
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu) rs2145896441
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) rs2133386949
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) rs2133361857
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001164508.2(NEB):c.12718G>T (p.Ala4240Ser) rs561736266
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter) rs2154304590
NM_001267550.2(TTN):c.2224del (p.Ser742fs) rs2093148818
NM_001267550.2(TTN):c.38523del (p.Lys12841fs) rs1457702153
NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser) rs2154161353
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly) rs760500171
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter) rs2059695805
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.7240G>T (p.Val2414Phe) rs2149366348
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) rs1563980403
NM_016213.5(TRIP4):c.1678+1_1678+2insC rs2140313200
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs) rs2147349682
NM_020451.3(SELENON):c.872+1G>A rs2047936719
NM_152263.4(TPM3):c.377+863_775+422del
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del) rs1430734342
NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met) rs749743156
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551

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