ClinVar Miner

List of variants studied for Lateral meningocele syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029 0.90682
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.5815+36G>A rs2074618 0.90515
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777 0.90510
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000435.3(NOTCH3):c.5913+55A>G rs757472 0.86388
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.2792+21G>A rs11669982 0.76928
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_000435.3(NOTCH3):c.3461-32C>T rs56061231 0.63976
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620 0.59905
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823 0.56639
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_000435.3(NOTCH3):c.4562C>G (p.Pro1521Arg) rs2145408966
NM_000435.3(NOTCH3):c.5913+45T>C rs4809028
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs) rs1555725043
NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs) rs1599359239
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910

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