List of variants in gene ADAR reported as pathogenic by OMIM

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)	rs28936681	0.00003
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs)	rs398122898
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)	rs121912421
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter)	rs768943773
NM_001111.5(ADAR):c.2077C>T (p.Gln693Ter)	rs121912423
NM_001111.5(ADAR):c.2768T>C (p.Leu923Pro)	rs28936680
NM_001111.5(ADAR):c.2854A>T (p.Lys952Ter)	rs121912422
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)	rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)	rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)	rs398122894
NM_001111.5(ADAR):c.941_942del (p.Ser314fs)	rs387906541

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