ClinVar Miner

List of variants reported as benign for cerebral palsy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000817.3(GAD1):c.111T>C (p.His37=) rs769404 0.34892
NM_000817.3(GAD1):c.-147G>A rs3749034 0.18184
NM_000817.3(GAD1):c.1595G>A (p.Arg532Gln) rs769402 0.05855
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_000817.3(GAD1):c.*1008C>T rs769399 0.01267
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_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015

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