ClinVar Miner

List of variants studied for Alport syndrome 1, X-linked recessive by Mendelics

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Total variants: 14
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HGVS dbSNP
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.2395+2T>A rs1603293639
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_033380.3(COL4A5):c.321+2T>G rs1603279005
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=) rs1603326524
NM_033380.3(COL4A5):c.4822-1G>T rs1603328372

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