ClinVar Miner

List of variants reported as pathogenic for ciliopathy by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
NM_033028.5(BBS4):c.217del (p.Gln73fs)
NM_144596.4(TTC8):c.572del (p.Leu191fs)
NM_144596.4(TTC8):c.699del (p.Lys233fs)
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
NM_152384.3(BBS5):c.198del (p.Val67fs)
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.95del (p.Pro32fs)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.621_702+3del

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