ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys) rs2060086619
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) rs2059121113
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs) rs1976337637
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) rs1973758214
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) rs1968585119
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) rs1963420059
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) rs1963402519
NM_000092.5(COL4A4):c.4508del (p.His1503fs) rs1963379793
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) rs2061397001
NM_000092.5(COL4A4):c.558+1G>A rs2061393783
NM_000092.5(COL4A4):c.559-2A>C rs766243664
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5:c.1205_1369del

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