ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2U

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala) rs587777797
NM_001101426.4(CRPPA):c.165del (p.Cys56fs) rs1554371369
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)

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