ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
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_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
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

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