ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2G

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_003673.3(TCAP):c.110_110+1del rs786205076
NM_003673.3(TCAP):c.113G>T (p.Cys38Phe) rs375310569
NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_003673.3(TCAP):c.32C>A (p.Ser11Ter) rs45495192
NM_003673.3(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) rs45509691
NM_003673.3(TCAP):c.458G>A (p.Arg153His) rs149585781

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