ClinVar Miner

List of variants studied for primary ciliary dyskinesia 21

Included ClinVar conditions (3):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg) rs939820 0.99790
NM_145038.5(DRC1):c.1397-15A>G rs4072407 0.66267
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) rs3795958 0.14109
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile) rs143181834 0.00771
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val) rs78892546 0.00566
NM_145038.5(DRC1):c.2166+16_2166+17insA rs546596010 0.00252
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) rs151184011 0.00149
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val) rs199574440 0.00029
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly) rs139583194 0.00023
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly) rs202052258 0.00022
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) rs142671417 0.00014
NM_145038.5(DRC1):c.1124G>A (p.Arg375His) rs141347582 0.00011
NM_145038.5(DRC1):c.1391G>A (p.Arg464His) rs200271366 0.00004
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NC_000002.12:g.26398040_26425787del
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter) rs1435637520
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)
NM_145038.5(DRC1):c.1196G>A (p.Trp399Ter)
NM_145038.5(DRC1):c.1976del (p.Ser659fs) rs772974990
NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter) rs587776997
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs) rs1558457993
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) rs763631774
NM_145038.5(DRC1):c.495T>G (p.Ala165=) rs7423300
NM_145038.5(DRC1):c.765+15C>T

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