ClinVar Miner

List of variants reported as pathogenic for hereditary skeletal muscle disorder by MGZ Medical Genetics Center

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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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) rs11394094 0.00159
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_213599.3(ANO5):c.1119+1G>T rs762946781 0.00001
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter) rs1578869371
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs) rs2097752909
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter) rs1556503937
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys) rs1555322610
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)

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