ClinVar Miner

List of variants reported as benign for X-linked Alport syndrome by Research and Development, ARUP Laboratories

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1191C>G (p.Gly397=) rs104886106
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_000495.5(COL4A5):c.3255T>A (p.Pro1085=) rs104886230
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.3582C>T (p.Pro1194=) rs104886243
NM_000495.5(COL4A5):c.4239C>T (p.Leu1413=) rs104886271
NM_000495.5(COL4A5):c.4275C>T (p.Asp1425=) rs61746140
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.609+21T>C rs6622333
NM_000495.5(COL4A5):c.970C>T (p.Pro324Ser) rs104886087
NM_033380.2(COL4A5):c.1033-15delT (p.?) rs104886089

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