ClinVar Miner

List of variants reported as pathogenic for Cerebral palsy

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
GRCh37/hg19 22q11.21(chr22:18873001-21469900)
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) rs730880264
NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg) rs2139149224
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_006009.4(TUBA1A):c.50G>A (p.Gly17Asp) rs2121248568
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_014946.4(SPAST):c.1099-4371_1245+1010del
NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter) rs1684124082
NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter) rs2153715439
Single allele

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