List of variants in gene ANO10 reported as 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg)	rs387907089	0.00003
NM_018075.5(ANO10):c.337+1G>A	rs765592794	0.00003
NM_018075.5(ANO10):c.1163-9A>G	rs1368543726	0.00001
NM_018075.5(ANO10):c.1219-1G>T	rs1318561721	0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)	rs772345347	0.00001
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)	rs1405576707
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)	rs794726680
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018075.5(ANO10):c.1476+1G>T	rs761213683
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)	rs2079693628
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)	rs794726681
NM_018075.5(ANO10):c.1669-2A>T	rs797045240
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter)	rs2149481901
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)	rs1210764379
NM_018075.5(ANO10):c.96del (p.Glu33fs)	rs758937084

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