ClinVar Miner

List of variants reported as likely pathogenic for X-linked Alport syndrome by Precision Medicine Center, Zhengzhou University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) rs2147813821
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2395+3A>G rs2147832635
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp) rs104886224
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) rs2147963152
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser) rs2147974808
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) rs2147759475
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084

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