ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 25
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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.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His) rs776520014 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser) rs772603507 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000070.3(CAPN3):c.266A>G (p.Tyr89Cys)
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr) rs2145723708
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_012470.4(TNPO3):c.1359-19A>G
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr) rs777736302
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)

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