ClinVar Miner

List of variants reported by Raymond Lab, University of Cambridge

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00002
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001145073.3(USP27X):c.310_311del (p.Asp104fs) rs1601932069
NM_001172509.2(SATB2):c.598-2A>G rs1574554519
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly) rs1603401125
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001378418.1(TCF20):c.3803_3804del (p.Arg1268fs) rs1569146542
NM_001379110.1(SLC9A6):c.637+1G>A rs1603198937
NM_002025.4(AFF2):c.3229C>T (p.Gln1077Ter) rs1603350606
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) rs1597665063
NM_003124.5(SPR):c.305-2A>G rs1573882268
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) rs1570600997
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu) rs1431778557
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs) rs1597846084
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_020435.4(GJC2):c.107del (p.Ile36fs) rs1571907430
NM_021120.4(DLG3):c.1375_1378del (p.Val459fs) rs1602880906
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs) rs1595808957
NM_139058.3(ARX):c.1446_1448+1dup rs1601946481
NM_153252.5(BRWD3):c.3791del (p.Ser1264fs) rs1602308324
Single allele

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