ClinVar Miner

List of variants studied for Muscle AMP deaminase deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	rs17602729	0.08701
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	rs34526199	0.02732
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)	rs139582106	0.00096
NM_000036.3(AMPD1):c.1388+5G>A	rs374144421	0.00009

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