ClinVar Miner

List of variants studied for triple-A syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (2):

Alacrima, achalasia, and intellectual disability syndrome
Glucocorticoid deficiency with achalasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	rs121918550	0.00005
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)	rs754637718	0.00003
NM_015665.6(AAAS):c.1448del (p.Pro483fs)

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