List of variants in gene AICDA reported as pathogenic for autosomal recessive disease

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_020661.4(AICDA):c.416T>C (p.Met139Thr)	rs200858797	0.00019
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)	rs193922703	0.00003
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)	rs1260264247	0.00002
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg)	rs762590894	0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)	rs1057520542	0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)	rs104894323	0.00001
NC_000012.12:g.(?_8604264)_(8612787_?)del
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe)	rs387906329
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)	rs104894325
NM_020661.4(AICDA):c.22_40del (p.Arg8fs)	rs387906328
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)	rs104894320
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro)	rs104894321
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	rs2136431608
NM_020661.4(AICDA):c.415A>G (p.Met139Val)	rs104894322
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser)	rs104894327
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	rs769399833
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)	rs104894324
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)

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