ClinVar Miner

List of variants reported as pathogenic by HerediLab, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr) rs1488213352 0.00001
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) rs61761869
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) rs113817720
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs) rs1566756379
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro) rs1566753480
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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