ClinVar Miner

List of variants in gene ALPL reported as pathogenic by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	rs139811782	0.00002
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001

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