ClinVar Miner

List of variants studied for ciliopathy by Sharon lab, Hadassah-Hebrew University Medical Center

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112 0.00001
NC_000015.10:g.72708224_72722485del
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val) rs1597041976
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu) rs1572936360
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858

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