List of variants in gene ATP6V0A4 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020632.3(ATP6V0A4):c.1029+5G>A	rs147476317	0.00011
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)	rs1252623454	0.00003
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)	rs763982675	0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup	rs753232747	0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)	rs754517968	0.00002
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)	rs1443883930	0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A	rs145809731	0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	rs28939081	0.00001
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)	rs1584907924
NM_020632.3(ATP6V0A4):c.2011-2A>T
NM_020632.3(ATP6V0A4):c.2139+1G>T
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)	rs934266733
NM_020632.3(ATP6V0A4):c.292-1G>A	rs776867749

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