ClinVar Miner

List of variants in gene CRPPA reported as likely pathogenic for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205

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