ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (273):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln) rs369942016 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met) rs777349822 0.00003
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu) rs1385061611 0.00001
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met) rs1005911734 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) rs192025919 0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702 0.00001
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001195305.3(BBIP1):c.38-6071C>G rs760064445
NM_001199397.3(NEK1):c.2974+1G>T rs1561165983
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro) rs1554020960
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_183065.4(TMEM107):c.*755C>T rs75008470

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