ClinVar Miner

List of variants studied for citrullinemia by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.-5-172T>C rs1760275 0.97728
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.78321
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_054012.4(ASS1):c.566+88C>T rs493389 0.60716
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.57262
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10382
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00027
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00011
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 0.00001
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) rs759288496 0.00001
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter) rs2118880170
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.439A>C (p.Met147Leu) rs2131882521
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe) rs772369785
NM_054012.4(ASS1):c.830_831del (p.Lys277fs) rs2118841816

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