ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by Natera, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg) rs200866082 0.00067
NM_000091.5(COL4A3):c.2489-8G>A rs201846272 0.00061
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505 0.00014
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=) rs527383673 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 0.00004
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=) rs375442737 0.00001
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749

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