List of variants reported as pathogenic for autosomal recessive Alport syndrome by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)	rs201615111	0.00005
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	rs876657397
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)	rs2106271012
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	rs773081522
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)	rs786205640
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)	rs1963392922

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