List of variants in gene AHI1 reported as likely pathogenic for Familial aplasia of the vermis

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	rs780163791	0.00013
NM_001134831.2(AHI1):c.136-2A>G	rs776579906	0.00011
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)	rs891261493	0.00001
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)	rs1217172210	0.00001
NC_000006.11:g.(?_135679250)_(135679345_?)dup
NC_000006.12:g.(?_135394756)_(135411564_?)del
NM_001134831.2(AHI1):c.11-1G>C
NM_001134831.2(AHI1):c.1151+1G>A	rs2128081334
NM_001134831.2(AHI1):c.136-1G>A	rs2128100946
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)	rs2128059170
NM_001134831.2(AHI1):c.1779+1G>A
NM_001134831.2(AHI1):c.1779+1G>T
NM_001134831.2(AHI1):c.1913-1G>A
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)	rs1784406093
NM_001134831.2(AHI1):c.2493-1G>T
NM_001134831.2(AHI1):c.2624-2A>G
NM_001134831.2(AHI1):c.2760_2764+2del
NM_001134831.2(AHI1):c.2764+2T>C
NM_001134831.2(AHI1):c.2961+1G>A
NM_001134831.2(AHI1):c.2961+2T>G	rs2127973751
NM_001134831.2(AHI1):c.2989-2A>G	rs2128485171
NM_001134831.2(AHI1):c.2989-2A>T
NM_001134831.2(AHI1):c.3110-1G>A
NM_001134831.2(AHI1):c.3110-2A>G
NM_001134831.2(AHI1):c.3166-1G>T
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3427-1G>A
NM_001134831.2(AHI1):c.3486-2A>T
NM_001134831.2(AHI1):c.749+1G>C	rs780069818
NM_001134831.2(AHI1):c.750-1G>A
NM_001134831.2(AHI1):c.750-2A>G
NM_001134831.2(AHI1):c.932-2_932del

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