ClinVar Miner

List of variants studied for limb-girdle muscular dystrophy by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (99):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_133379.5(TTN):c.12356del (p.Glu4119fs) rs1085307104

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