ClinVar Miner

List of variants studied for chylomicron retention disease by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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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.364G>T (p.Glu122Ter) rs137853125 0.00002
NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg) rs28942110 0.00001
NM_016103.4(SAR1B):c.554G>T (p.Gly185Val) rs137853126 0.00001
NM_016103.4(SAR1B):c.109G>A (p.Gly37Arg) rs121917846
NM_016103.4(SAR1B):c.349-1G>C rs1580645999
NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs) rs1580645070
NM_016103.4(SAR1B):c.75_76del (p.Thr25_Gly26insTer) rs1580653772

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