ClinVar Miner

List of variants reported as likely pathogenic for ciliopathy by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001077418.3(TMEM231):c.310-2A>G rs2151703192
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg) rs1577406415
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs) rs1555293215
NM_024809.5(TCTN2):c.862_863del (p.Val288fs) rs1955997540
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805

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