ClinVar Miner

List of variants studied for Alport syndrome by Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303

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