ClinVar Miner

List of variants in gene combination ASNS, CZ1P-ASNS reported as uncertain significance for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.1587G>A (p.Arg529=) rs140975053 0.00208
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00114
NM_001673.5(ASNS):c.250-10G>A rs202126429 0.00016
NM_001673.5(ASNS):c.868A>G (p.Met290Val) rs146656175 0.00015
NM_001673.5(ASNS):c.1175G>A (p.Arg392Lys) rs199817844 0.00010
NM_001673.5(ASNS):c.1465G>A (p.Val489Ile) rs772079299 0.00010
NM_001673.5(ASNS):c.153G>A (p.Ala51=) rs143288271 0.00006
NM_001673.5(ASNS):c.1058G>A (p.Arg353Gln) rs377342766 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu) rs201432154 0.00004
NM_001673.5(ASNS):c.1304A>C (p.Glu435Ala) rs777272935 0.00003
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001673.5(ASNS):c.1159G>A (p.Glu387Lys) rs761319175 0.00002
NM_001673.5(ASNS):c.1031G>T (p.Gly344Val) rs543997525 0.00001
NM_001673.5(ASNS):c.1049A>G (p.Lys350Arg) rs1791391363 0.00001
NM_001673.5(ASNS):c.1112C>T (p.Thr371Met) rs753908207 0.00001
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys) rs375234125 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_001673.5(ASNS):c.1555C>T (p.Arg519Cys) rs1251417315 0.00001
NM_001673.5(ASNS):c.1616C>T (p.Pro539Leu) rs1182799813 0.00001
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu) rs774187768 0.00001
NM_001673.5(ASNS):c.613C>T (p.His205Tyr) rs1258978380 0.00001
NM_001673.5(ASNS):c.622C>T (p.Arg208Trp) rs1265117805 0.00001
NM_001673.5(ASNS):c.91G>T (p.Ala31Ser) rs1461068861 0.00001
NM_001673.5(ASNS):c.1138-8T>C rs2115608872
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001673.5(ASNS):c.1235A>G (p.His412Arg) rs201394816
NM_001673.5(ASNS):c.1570C>A (p.Arg524Ser) rs373078034
NM_001673.5(ASNS):c.1628A>G (p.Asn543Ser) rs751735389
NM_001673.5(ASNS):c.164C>T (p.Pro55Leu)
NM_001673.5(ASNS):c.224A>T (p.Asn75Ile) rs747624770
NM_001673.5(ASNS):c.29G>A (p.Ser10Asn) rs1562823595
NM_001673.5(ASNS):c.353A>G (p.Asp118Gly)
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu) rs2115707912
NM_001673.5(ASNS):c.673+3A>G
NM_001673.5(ASNS):c.7G>A (p.Gly3Ser) rs2115755612

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