ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_201378.4(PLEC):c.71-11866G>A rs199505812 0.00054
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_201378.4(PLEC):c.71-11602G>A rs374484619 0.00001
NC_012920.1(MT-ND5):m.13094T>C rs1603224029
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter) rs1602379828
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152393.4(KLHL40):c.1608-1G>A rs2125846068
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620

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