ClinVar Miner

List of variants studied for ciliopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194 0.00008
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001352754.2(ARMC9):c.-41-2521_177+2986del
NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn) rs147777576
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
Single allele

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