ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_033380.3(COL4A5):c.*48_*49insAT rs1556464307
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.2245-14T>A rs1569495752
NM_033380.3(COL4A5):c.2245-3A>G
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.2510-33A>G rs104886358
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) rs773883586
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
NM_033380.3(COL4A5):c.3455-8T>G rs1569505503
NM_033380.3(COL4A5):c.3808+17G>A
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)
NM_033380.3(COL4A5):c.466-17T>G rs104886415
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile)
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567
NM_033380.3(COL4A5):c.4994+3A>G rs1569509373
NM_033380.3(COL4A5):c.687+5G>A rs1556405930

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