ClinVar Miner

List of variants reported as not provided for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.11311+1799G>C rs147314430
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn) rs369302142
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.55432+5G>C rs754717390
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) rs551496477
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036
NM_001458.4(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778
NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) rs1008642

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