ClinVar Miner

List of variants in gene combination CDCA7L, DNAH11 reported as benign for ciliopathy

Included ClinVar conditions (273):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_018719.5(CDCA7L):c.*1327dup
NM_018719.5(CDCA7L):c.*551CACTGGA[1] rs113860457

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