ClinVar Miner

List of variants studied for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.629T>A (p.Val210Glu) rs1049674 0.81682
NM_001673.5(ASNS):c.1209C>G (p.Leu403=) rs1049677 0.04876
NM_001673.5(ASNS):c.18G>A (p.Ala6=) rs76996735 0.00904
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.1164G>A (p.Glu388=) rs200290689 0.00059
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.288G>A (p.Val96=) rs554805942 0.00012
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.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.1159G>A (p.Glu387Lys) rs761319175 0.00002
NM_001673.5(ASNS):c.513G>A (p.Ala171=) rs755945639 0.00002
NM_001673.5(ASNS):c.594C>T (p.Ser198=) rs527301530 0.00002
NM_001673.5(ASNS):c.1031G>T (p.Gly344Val) rs543997525 0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs) rs773348232 0.00001
NM_001673.5(ASNS):c.1616C>T (p.Pro539Leu) rs1182799813 0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 0.00001
NM_001673.5(ASNS):c.1674T>C (p.Ala558=) rs760440838 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.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1570C>A (p.Arg524Ser) rs373078034
NM_001673.5(ASNS):c.1626C>T (p.Ile542=) rs1584455597
NM_001673.5(ASNS):c.1628A>G (p.Asn543Ser) rs751735389
NM_001673.5(ASNS):c.1A>G (p.Met1Val) rs2115755676
NM_001673.5(ASNS):c.591A>C (p.Ala197=) rs141969298

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