ClinVar Miner

List of variants in gene CCDC103 reported as likely benign for ciliopathy

Included ClinVar conditions (272):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_213607.3(CCDC103):c.*4G>A rs8079308 0.26209
NM_213607.2(CCDC103):c.-164T>G rs2277617 0.25672
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu) rs142342712 0.00058
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_213607.3(CCDC103):c.182G>A (p.Arg61Gln) rs150876063 0.00011
NM_213607.3(CCDC103):c.303G>A (p.Thr101=) rs200964903 0.00004
NM_213607.3(CCDC103):c.393C>T (p.Leu131=) rs766427351 0.00004
NM_213607.3(CCDC103):c.486G>A (p.Ala162=) rs562183648 0.00003
NM_213607.3(CCDC103):c.348G>C (p.Gly116=) rs575078578 0.00001
NM_213607.3(CCDC103):c.439C>T (p.Leu147=) rs1178106681 0.00001
NM_213607.3(CCDC103):c.501A>G (p.Leu167=) rs374801461 0.00001
NM_213607.3(CCDC103):c.513G>A (p.Ala171=) rs557822238 0.00001
NM_213607.3(CCDC103):c.558A>C (p.Ala186=) rs1034464450 0.00001
NM_213607.3(CCDC103):c.567G>A (p.Glu189=) rs771177851 0.00001
NM_213607.3(CCDC103):c.705G>C (p.Leu235=) rs878855312 0.00001
NM_213607.3(CCDC103):c.72G>A (p.Glu24=) rs752532336 0.00001
NM_213607.3(CCDC103):c.129C>T (p.Ser43=)
NM_213607.3(CCDC103):c.138G>C (p.Glu46Asp)
NM_213607.3(CCDC103):c.143+14C>T
NM_213607.3(CCDC103):c.143+8C>T
NM_213607.3(CCDC103):c.144-12C>T
NM_213607.3(CCDC103):c.144-15G>A
NM_213607.3(CCDC103):c.183G>C (p.Arg61=)
NM_213607.3(CCDC103):c.241A>C (p.Arg81=)
NM_213607.3(CCDC103):c.246C>A (p.Thr82=)
NM_213607.3(CCDC103):c.264T>C (p.Thr88=)
NM_213607.3(CCDC103):c.264T>G (p.Thr88=)
NM_213607.3(CCDC103):c.273C>T (p.Ser91=)
NM_213607.3(CCDC103):c.276+10G>A
NM_213607.3(CCDC103):c.276+12C>T
NM_213607.3(CCDC103):c.276+18C>T
NM_213607.3(CCDC103):c.276+19C>T
NM_213607.3(CCDC103):c.277-12T>C
NM_213607.3(CCDC103):c.277-4C>T
NM_213607.3(CCDC103):c.277-8T>C
NM_213607.3(CCDC103):c.285C>A (p.Ala95=)
NM_213607.3(CCDC103):c.288C>A (p.Pro96=)
NM_213607.3(CCDC103):c.288C>T (p.Pro96=)
NM_213607.3(CCDC103):c.297C>G (p.Pro99=)
NM_213607.3(CCDC103):c.297C>T (p.Pro99=) rs112994687
NM_213607.3(CCDC103):c.306T>G (p.Ser102=)
NM_213607.3(CCDC103):c.321T>C (p.Arg107=)
NM_213607.3(CCDC103):c.336C>T (p.His112=)
NM_213607.3(CCDC103):c.363G>A (p.Gln121=)
NM_213607.3(CCDC103):c.367C>T (p.Leu123=)
NM_213607.3(CCDC103):c.402C>T (p.Leu134=)
NM_213607.3(CCDC103):c.462C>T (p.His154=)
NM_213607.3(CCDC103):c.471G>A (p.Pro157=)
NM_213607.3(CCDC103):c.48G>A (p.Leu16=)
NM_213607.3(CCDC103):c.495G>A (p.Gly165=)
NM_213607.3(CCDC103):c.519T>C (p.Thr173=)
NM_213607.3(CCDC103):c.547C>T (p.Leu183=)
NM_213607.3(CCDC103):c.552C>T (p.Ser184=)
NM_213607.3(CCDC103):c.555G>A (p.Arg185=)
NM_213607.3(CCDC103):c.558A>G (p.Ala186=)
NM_213607.3(CCDC103):c.594G>A (p.Leu198=)
NM_213607.3(CCDC103):c.606C>A (p.Gly202=) rs763062802
NM_213607.3(CCDC103):c.61A>G (p.Thr21Ala)
NM_213607.3(CCDC103):c.630G>A (p.Gly210=)
NM_213607.3(CCDC103):c.633C>T (p.Leu211=)
NM_213607.3(CCDC103):c.648G>A (p.Gln216=)
NM_213607.3(CCDC103):c.657G>A (p.Glu219=)
NM_213607.3(CCDC103):c.66T>A (p.Ala22=)
NM_213607.3(CCDC103):c.66T>C (p.Ala22=)
NM_213607.3(CCDC103):c.675C>T (p.Leu225=)
NM_213607.3(CCDC103):c.696G>A (p.Leu232=)
NM_213607.3(CCDC103):c.69T>C (p.Asp23=)
NM_213607.3(CCDC103):c.711G>A (p.Glu237=)
NM_213607.3(CCDC103):c.717C>T (p.Tyr239=)
NM_213607.3(CCDC103):c.720G>A (p.Gln240=)
NM_213607.3(CCDC103):c.78C>T (p.Tyr26=)
NM_213607.3(CCDC103):c.81A>G (p.Lys27=) rs1567763166

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