List of variants in gene GPIHBP1 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)	rs201685731	0.00049
NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	rs1300685456	0.00001
NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr)	rs587777638	0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)	rs587777643	0.00001
NC_000008.11:g.(?_143213218)_(143217170_?)del
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
NM_178172.6(GPIHBP1):c.182-1G>T	rs2130672651
NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser)	rs587777638
NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly)	rs587777639
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)	rs780340378
NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe)	rs587777640
NM_178172.6(GPIHBP1):c.272C>A (p.Thr91Asn)
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)	rs587777641
NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro)	rs587777637
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)
NM_178172.6(GPIHBP1):c.406T>G (p.Cys136Gly)
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs)	rs587777642
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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