ClinVar Miner

List of variants in gene combination CAST, LOC101929710, PCSK1 reported as uncertain significance for nutritional disorder

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000439.5(PCSK1):c.*1333A>T rs6556922 0.02116
NM_000439.5(PCSK1):c.*1842G>A rs10515236 0.01069
NM_000439.5(PCSK1):c.*597T>C rs115434587 0.00689
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236 0.00661
NM_000439.5(PCSK1):c.*1132C>T rs139172738 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000439.5(PCSK1):c.*2187G>A rs191960713 0.00113
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) rs142097318 0.00068
NM_000439.5(PCSK1):c.*262del rs886060885 0.00065
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) rs189927028 0.00057
NM_000439.5(PCSK1):c.-21G>A rs188670849 0.00041
NM_000439.5(PCSK1):c.*1307A>G rs554558654 0.00039
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_000439.5(PCSK1):c.*1733G>A rs189919167 0.00038
NM_000439.5(PCSK1):c.-140C>T rs142567487 0.00029
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) rs544018373 0.00027
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) rs145558922 0.00027
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) rs142840946 0.00022
NM_000439.5(PCSK1):c.*1231C>T rs886060881 0.00021
NM_000439.5(PCSK1):c.*2611A>G rs746472388 0.00018
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) rs146545244 0.00018
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) rs140520429 0.00016
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) rs145592525 0.00014
NM_000439.5(PCSK1):c.*1443C>T rs182581645 0.00013
NM_000439.5(PCSK1):c.*287A>G rs373041583 0.00012
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) rs200969251 0.00011
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000439.5(PCSK1):c.*471C>G rs886060884 0.00009
NM_000439.5(PCSK1):c.*2634G>A rs1050484297 0.00006
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_000439.5(PCSK1):c.*2582A>G rs1470735979 0.00005
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) rs765217767 0.00005
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) rs1026383684 0.00005
NM_000439.5(PCSK1):c.624C>T (p.His208=) rs111380006 0.00005
NM_000439.5(PCSK1):c.*170A>T rs950364201 0.00004
NM_000439.5(PCSK1):c.*2019A>G rs558370034 0.00004
NM_000439.5(PCSK1):c.*2288A>G rs886060874 0.00004
NM_000439.5(PCSK1):c.*438C>A rs750185441 0.00004
NM_000439.5(PCSK1):c.1884+13C>G rs369199804 0.00004
NM_000439.5(PCSK1):c.*1401C>T rs886060880 0.00003
NM_000439.5(PCSK1):c.*1571A>G rs886060878 0.00003
NM_000439.5(PCSK1):c.*88G>C rs886060886 0.00003
NM_000439.5(PCSK1):c.*905T>C rs886060883 0.00003
NM_000439.5(PCSK1):c.*974A>G rs1039266884 0.00003
NM_000439.5(PCSK1):c.1196+10A>G rs755372795 0.00003
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) rs769203665 0.00003
NM_000439.5(PCSK1):c.*120C>T rs915412736 0.00002
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) rs762962091 0.00002
NM_000439.5(PCSK1):c.*1912G>A rs886060876 0.00001
NM_000439.5(PCSK1):c.*2636C>T rs1442234605 0.00001
NM_000439.5(PCSK1):c.*837G>A rs772439505 0.00001
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) rs140481124 0.00001
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) rs757534603 0.00001
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) rs1183710202 0.00001
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) rs1314225482 0.00001
NM_000439.5(PCSK1):c.*1097C>A rs867846512
NM_000439.5(PCSK1):c.*1164T>C rs886060882
NM_000439.5(PCSK1):c.*1232G>A rs373852338
NM_000439.5(PCSK1):c.*1372C>G rs764110111
NM_000439.5(PCSK1):c.*1414A>C rs886060879
NM_000439.5(PCSK1):c.*1854T>A rs886060877
NM_000439.5(PCSK1):c.*1967C>T rs41276267
NM_000439.5(PCSK1):c.*2115G>A rs147244631
NM_000439.5(PCSK1):c.*2166C>T rs886060875
NM_000439.5(PCSK1):c.*245G>T rs1759988394
NM_000439.5(PCSK1):c.-137A>G rs886060889
NM_000439.5(PCSK1):c.-147C>G rs886060890
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) rs2112399256
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
NM_000439.5(PCSK1):c.1430+7A>G
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) rs1580744780
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) rs1760081033
NM_000439.5(PCSK1):c.1884+11C>T rs1389335567
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) rs1760001769
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) rs886060887
NM_000439.5(PCSK1):c.621-8A>G
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr)
NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) rs1580755294

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