ClinVar Miner

List of variants in gene COL4A3 reported as pathogenic 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: 6
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COL4A3, 5-BP DEL, NT4414
COL4A3, IVS21DS, G-A, -1
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)

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