ClinVar Miner

List of variants reported as pathogenic for Aspartylglucosaminuria by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)	rs121964904	0.00055
NM_000027.4(AGA):c.101_107del (p.Trp34fs)	rs759063638
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420

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