ClinVar Miner

List of variants studied for Alport syndrome by Baylor Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile) rs749989473
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000092.5(COL4A4):c.1030-14A>G rs2060400553
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071

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