ClinVar Miner

List of variants studied for X-linked Alport syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg) rs140753501
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs) rs2067083148
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)

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