ClinVar Miner

List of variants reported as uncertain significance for qualitative or quantitative defects of protein ZASP by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00011
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.1858-11C>A rs369454227 0.00007
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn) rs150188572 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_007078.3(LDB3):c.-20C>T rs531819676 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.2037C>T (p.Gly679=) rs754386652 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) rs746183666
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys) rs950395877
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) rs1846888303
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro) rs953198544

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