ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Lifecell International Pvt. Ltd

Included ClinVar conditions (586):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001195518.2(MICU1):c.1072-1G>C rs754639936
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_002495.4(NDUFS4):c.351-1G>C
NM_004006.3(DMD):c.2381-1G>T rs398123887
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)

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