ClinVar Miner

List of variants reported as benign for alpha-N-acetylgalactosaminidase deficiency type 3 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.597+18dup rs553359794
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) rs578127376

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