ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by 3billion, Medical Genetics

Included ClinVar conditions (587):
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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_018116.4(MSTO1):c.22G>A (p.Val8Met) rs762798018 0.00005
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) rs760968251 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) rs375067326 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg) rs2141102622
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg) rs1731993495
NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001151.4(SLC25A4):c.787A>G (p.Lys263Glu)
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup) rs2123484082
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del) rs2125168730
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu)
NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)
NM_004006.3(DMD):c.10087_10098del (p.Thr3363_Gly3366del) rs2148292317
NM_004006.3(DMD):c.1705-18T>G rs2149137321
NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del) rs767034345
NM_004006.3(DMD):c.70T>C (p.Trp24Arg)
NM_004006.3(DMD):c.7310-19A>G
NM_004006.3(DMD):c.9225-15del rs2147649939
NM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp)
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp) rs2150989792
NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser) rs2150978746
NM_017534.6(MYH2):c.5673+4_5673+7del
NM_018116.4(MSTO1):c.262G>T (p.Asp88Tyr)
NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)
NM_031157.4(HNRNPA1):c.240_243del (p.Asp80fs) rs2137041785
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del) rs1396335431
NM_198271.5(LMOD3):c.1130T>G (p.Phe377Cys) rs373483102

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