ClinVar Miner

List of variants in gene LDLRAP1, LOC129929773 studied for Familial hypercholesterolemia

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554

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