ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Phosphorus, Inc.

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.10115-4G>A rs367648529
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467
NM_001267550.2(TTN):c.11311+1780T>C rs184027783
NM_001267550.2(TTN):c.11311+2623T>C rs182640468
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=) rs779159076
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) rs779159076
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837
NM_001458.4(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_001458.4(FLNC):c.6175G>A (p.Val2059Met) rs201333104
NM_001458.4(FLNC):c.7947C>T (p.Phe2649=) rs368849358
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198

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