ClinVar Miner

List of variants in gene LDLRAP1 studied for Familial hypercholesterolemia

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=) rs28969504 0.62316
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro) rs6687605 0.47789
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
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.141G>A (p.Leu47=) rs543454612 0.00009
NM_015627.3(LDLRAP1):c.397G>A (p.Ala133Thr) rs529005321 0.00009
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met) rs142920998 0.00006
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=) rs375358854 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 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.621C>T (p.Val207=) rs554028072 0.00003
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.645A>G (p.Leu215=) rs776681796 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.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn) rs750330964 0.00001
NM_015627.3(LDLRAP1):c.617-8C>T rs746302717 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.363A>G (p.Ala121=) rs1572039510
NM_015627.3(LDLRAP1):c.459+6C>A rs762507383
NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)
NM_015627.3(LDLRAP1):c.533-1G>A rs762148512
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
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
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973

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