List of variants in gene GPIHBP1 reported as likely pathogenic for Hyperlipoproteinemia, type 1D

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	rs1300685456	0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)	rs587777643	0.00001
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)	rs780340378
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)
NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)	rs1284611659
NM_178172.6(GPIHBP1):c.433C>T (p.Arg145Ter)	rs759883512
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	rs145844329

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