ClinVar Miner

List of variants in gene combination CRPPA, LOC129998005 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)

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