ClinVar Miner

List of variants studied for X-linked Alport syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) rs2068413590

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