ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by 3billion

Included ClinVar conditions (4):

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria
Autosomal dominant Alport syndrome; Benign familial hematuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	rs869025328	0.00001
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)	rs1574782666
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)

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