List of variants in gene COL4A3, LOC129935730 studied for Alport syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser)	rs139271412	0.00952
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)	rs184704920	0.00624
NM_000091.5(COL4A3):c.-13G>C	rs770803750	0.00217
NM_000091.5(COL4A3):c.-10C>T	rs781380101	0.00039
NM_000091.5(COL4A3):c.-26G>T	rs747049729	0.00019
NM_000091.5(COL4A3):c.63G>A (p.Leu21=)	rs1036829250	0.00008
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	rs921905047	0.00007
NM_000091.5(COL4A3):c.-16T>C	rs886055736	0.00002
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	rs1396602090	0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)	rs542100614	0.00001
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)	rs1189095338
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	rs876657397
NM_000091.5(COL4A3):c.87+7G>T	rs1358691399

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