ClinVar Miner

List of variants in gene ALPL reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) rs1553411896
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378

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