ClinVar Miner

List of variants reported as pathogenic for cerebral cortex disorder by OMIM

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr) rs1186696459 0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr) rs769373772 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NC_000009.12:g.(606181_654801)_831563del
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) rs63750129
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264
NM_016824.5(ADD3):c.[1588G>A;86A>G]
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter) rs1644265859
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr) rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs) rs753787033
NM_032756.4(HPDL):c.342_343insTGCC (p.Ala115fs) rs1644248782
NM_032756.4(HPDL):c.353dup (p.Tyr118Ter) rs2149081651
NM_032756.4(HPDL):c.527T>C (p.Leu176Pro) rs773333490
NM_032756.4(HPDL):c.537G>C (p.Trp179Cys) rs1644253602
NM_032756.4(HPDL):c.779G>A (p.Gly260Glu) rs758290491
NM_032756.4(HPDL):c.954dup (p.Gly319fs) rs2149082294

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