ClinVar Miner

List of variants reported as benign for cerebral cortex disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000817.3(GAD1):c.111T>C (p.His37=) rs769404 0.34892
NM_000817.3(GAD1):c.-147G>A rs3749034 0.18184
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_000817.3(GAD1):c.1595G>A (p.Arg532Gln) rs769402 0.05855
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_000817.3(GAD1):c.1450C>T (p.Leu484=) rs769392 0.04124
NM_000817.3(GAD1):c.*67A>G rs769406 0.02439
NM_000817.3(GAD1):c.*700C>T rs45479900 0.02281
NM_000817.3(GAD1):c.1002+12G>A rs701491 0.02121
NM_000817.3(GAD1):c.-158G>A rs45486908 0.02100
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000817.3(GAD1):c.*1008C>T rs769399 0.01267
NM_015158.5(KANK1):c.624C>G (p.Ala208=) rs116178720 0.01172
NM_000817.3(GAD1):c.*803T>C rs45557335 0.01102
NM_000817.3(GAD1):c.*513C>T rs45456393 0.00956
NM_000817.2(GAD1):c.-244G>A rs576236119 0.00378
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000817.3(GAD1):c.1473T>C (p.Tyr491=) rs146199288 0.00168
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) rs115758363 0.00053
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000817.3(GAD1):c.1184+17G>A rs180969459 0.00033
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NC_000014.9:g.73136378del rs148370307
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) rs150841255
NM_000817.3(GAD1):c.638+18dup
NM_015158.5(KANK1):c.3554-9_3554-5del rs58169581

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