List of variants in gene HOGA1 reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)	rs138207257	0.00009
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)	rs1419840309	0.00001
NM_138413.4(HOGA1):c.341-1G>A	rs1554874130	0.00001
NM_138413.4(HOGA1):c.700+2T>G	rs990830655	0.00001
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)	rs924232072
NM_138413.4(HOGA1):c.122dup (p.Val42fs)	rs1425736036
NM_138413.4(HOGA1):c.404del (p.Val135fs)	rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs)	rs777683624
NM_138413.4(HOGA1):c.448del (p.Leu150fs)	rs746776892
NM_138413.4(HOGA1):c.701-2A>G	rs776817346
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter)	rs752277936
NM_138413.4(HOGA1):c.834+1G>A	rs749315029

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