List of variants in gene ATP6V1B1 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)	rs121964881	0.00009
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)	rs145536062	0.00004
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn)	rs782484337	0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)	rs1572924733	0.00001
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs)	rs1680634325
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)	rs1553416787
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn)	rs2104834809
NM_001692.4(ATP6V1B1):c.273+2T>A	rs1680488861
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)	rs1679840658
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)	rs1553419751
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)

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