ClinVar Miner

List of variants reported as uncertain significance for skeletal muscle disorder by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (625):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) rs558262843 0.00016
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) rs759581394 0.00011
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys) rs779998857 0.00003
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) rs753437773 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
GRCh38/hg38 17q12(chr17:36719878-37889304)
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001267550.2(TTN):c.11311+1830G>C

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