List of variants in gene COL4A3, LOC129935730 studied for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.21C>A (p.Pro7=)	rs530353117	0.00045
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)	rs1260966222	0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)	rs542100614	0.00001
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)	rs570469692

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