ClinVar Miner

List of variants in gene SAR1B reported as likely pathogenic for chylomicron retention disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016103.4(SAR1B):c.247C>T (p.Arg83Ter) rs61749633 0.00001
GRCh37/hg19 5q31.1(chr5:133956623-133959709)

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