List of variants in gene LDLRAP1 reported as uncertain significance for Familial hypercholesterolemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)	rs121908326	0.00147
NM_015627.3(LDLRAP1):c.626C>T (p.Thr209Ile)	rs141522360	0.00038
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp)	rs148916767	0.00032
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)	rs199605881	0.00024
NM_015627.3(LDLRAP1):c.344+4C>T	rs371561646	0.00023
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)	rs146122441	0.00012
NM_015627.3(LDLRAP1):c.397G>A (p.Ala133Thr)	rs529005321	0.00009
NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met)	rs142920998	0.00006
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met)	rs142139501	0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)	rs764804901	0.00004
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile)	rs367832795	0.00003
NM_015627.3(LDLRAP1):c.116G>A (p.Arg39Gln)	rs761580368	0.00002
NM_015627.3(LDLRAP1):c.167C>T (p.Thr56Met)	rs752849346	0.00002
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu)	rs746229586	0.00002
NM_015627.3(LDLRAP1):c.115C>T (p.Arg39Trp)	rs201179339	0.00001
NM_015627.3(LDLRAP1):c.208G>A (p.Ala70Thr)	rs776857764	0.00001
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met)	rs767491845	0.00001
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met)	rs780582666	0.00001
NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn)	rs750330964	0.00001
NM_015627.3(LDLRAP1):c.675G>A (p.Thr225=)	rs926407411	0.00001
NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr)	rs1047410438	0.00001
NM_015627.3(LDLRAP1):c.459+6C>A	rs762507383
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly)	rs1448386026
NM_015627.3(LDLRAP1):c.673A>G (p.Thr225Ala)	rs767432973
NM_015627.3(LDLRAP1):c.682G>A (p.Ala228Thr)	rs1242550557

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