List of variants in gene COL4A5 reported by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp)	rs281874671
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser)	rs2147809975
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)	rs2065868609
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)
NM_033380.3(COL4A5):c.228A>T (p.Gln76His)	rs2147722497
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)	rs1603323174
NM_033380.3(COL4A5):c.845dup (p.Gly283fs)	rs2147776527

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