List of variants in gene AHI1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)	rs6940875	0.01691
NM_001134831.2(AHI1):c.1152-11T>G	rs113317693	0.01324
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)	rs117447608	0.00497
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)	rs143522987	0.00307
NM_001134831.2(AHI1):c.-140+1G>T	rs145372075	0.00258
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)	rs148000791	0.00115
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)	rs142704960	0.00032
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)	rs183936286	0.00009
NM_001134831.2(AHI1):c.1803C>A (p.His601Gln)	rs375537062

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