ClinVar Miner

List of variants studied for Alport syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser) rs761262391 0.00003
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln) rs937092831 0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg) rs2106147444
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val) rs1174417447
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg) rs2106226509
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu) rs2125911862
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser) rs2073644777
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val) rs2125924674
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs) rs2147798059
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs) rs2147798228
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val) rs2147865541
NM_033380.3(COL4A5):c.3106+1G>A rs2147872358
NM_033380.3(COL4A5):c.347del (p.Pro116fs) rs2147746687
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg) rs104886237
NM_033380.3(COL4A5):c.3554-2A>G rs2147956337
NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg) rs2147759184
NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser) rs2147776763

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