ClinVar Miner

List of variants studied for Adams-Oliver syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020754.4(ARHGAP31):c.*466C>T	rs116944967	0.00002
NM_020754.4(ARHGAP31):c.*1533T>C	rs567101775	0.00001
NM_020754.4(ARHGAP31):c.-172CCCGCGG[3]	rs886057796
NM_020754.4(ARHGAP31):c.349-9_349-7del	rs771235886
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val)	rs529703977

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