ClinVar Miner

List of variants in gene LDLRAP1, LOC129929773 studied for familial hyperlipidemia

Included ClinVar conditions (29):
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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.-46G>C rs146258998 0.00294
NM_015627.3(LDLRAP1):c.-92G>T rs575569789 0.00024
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_015627.2(LDLRAP1):c.-100G>A rs1044796585 0.00014
NM_015627.2(LDLRAP1):c.-105G>T rs915407366 0.00006
NM_015627.3(LDLRAP1):c.-68G>A rs1007363567 0.00006
NM_015627.3(LDLRAP1):c.-75G>T rs887610609 0.00005
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
NM_015627.3(LDLRAP1):c.6C>T (p.Asp2=) rs778962768 0.00003
NM_015627.3(LDLRAP1):c.88+13G>A rs1557692039 0.00002
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_015627.3(LDLRAP1):c.51G>A (p.Leu17=) rs1480787251 0.00001
NM_015627.3(LDLRAP1):c.69G>T (p.Gly23=) rs868048475 0.00001
NM_015627.3(LDLRAP1):c.88+8T>A rs2043860268 0.00001
NM_015627.2(LDLRAP1):c.-105G>A rs915407366
NM_015627.3(LDLRAP1):c.-37T>C rs1057515425
NM_015627.3(LDLRAP1):c.-59G>A rs977183026
NM_015627.3(LDLRAP1):c.-70A>T rs1057515533
NM_015627.3(LDLRAP1):c.-80C>A rs575024313
NM_015627.3(LDLRAP1):c.12C>T (p.Leu4=)
NM_015627.3(LDLRAP1):c.17C>A (p.Ser6Ter)
NM_015627.3(LDLRAP1):c.18G>A (p.Ser6=)
NM_015627.3(LDLRAP1):c.18G>T (p.Ser6=)
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)
NM_015627.3(LDLRAP1):c.20del (p.Ala7fs) rs2124633546
NM_015627.3(LDLRAP1):c.21G>A (p.Ala7=) rs1397505429
NM_015627.3(LDLRAP1):c.21G>C (p.Ala7=) rs1397505429
NM_015627.3(LDLRAP1):c.21G>T (p.Ala7=) rs1397505429
NM_015627.3(LDLRAP1):c.24G>A (p.Gly8=) rs1334466061
NM_015627.3(LDLRAP1):c.24G>C (p.Gly8=) rs1334466061
NM_015627.3(LDLRAP1):c.24G>T (p.Gly8=) rs1334466061
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.27G>C (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.42C>T (p.Ser14=)
NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=) rs1057515534
NM_015627.3(LDLRAP1):c.46A>C (p.Ser16Arg) rs1218572882
NM_015627.3(LDLRAP1):c.50T>A (p.Leu17Ter)
NM_015627.3(LDLRAP1):c.54C>T (p.Ala18=) rs2124633760
NM_015627.3(LDLRAP1):c.58C>T (p.Gln20Ter)
NM_015627.3(LDLRAP1):c.63C>T (p.Ser21=) rs2124633771
NM_015627.3(LDLRAP1):c.64T>C (p.Trp22Arg) rs1057515535
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter) rs121908324
NM_015627.3(LDLRAP1):c.65G>T (p.Trp22Leu)
NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
NM_015627.3(LDLRAP1):c.67G>T (p.Gly23Trp) rs546193771
NM_015627.3(LDLRAP1):c.70G>A (p.Gly24Ser) rs563151154
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015627.3(LDLRAP1):c.72C>G (p.Gly24=) rs1371011465
NM_015627.3(LDLRAP1):c.72C>T (p.Gly24=)
NM_015627.3(LDLRAP1):c.74dup (p.Gly26fs) rs1553170279
NM_015627.3(LDLRAP1):c.76G>A (p.Gly26Ser) rs2043859563
NM_015627.3(LDLRAP1):c.88+14C>A
NM_015627.3(LDLRAP1):c.88+17C>T
NM_015627.3(LDLRAP1):c.88+18_88+22dup
NM_015627.3(LDLRAP1):c.88+19GCCGG[4]
NM_015627.3(LDLRAP1):c.88+5G>A rs1048978247
NM_015627.3(LDLRAP1):c.88+7G>T
NM_015627.3(LDLRAP1):c.9G>A (p.Ala3=)
NM_015627.3(LDLRAP1):c.9G>T (p.Ala3=)

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