ClinVar Miner

List of variants studied for Ciliary dyskinesia, primary, 47, and lissencephaly

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005427.4(TP73):c.519C>T (p.Thr173=) rs1801174 0.82420
NM_005427.4(TP73):c.985+15A>G rs2181486 0.74492
NM_005427.4(TP73):c.-20C>T rs1801173 0.18663
NM_005427.4(TP73):c.1342G>A (p.Val448Met) rs751239958 0.00002
NM_005427.4(TP73):c.1612C>T (p.Arg538Cys) rs780654718 0.00001
NM_005427.4(TP73):c.860G>A (p.Arg287His) rs988674658 0.00001
NC_000001.11:g.3727346_3739337delinsACCCAAAG
NM_005427.4(TP73):c.1196+1G>A rs2124533497
NM_005427.4(TP73):c.1392C>T (p.Gly464=)
NM_005427.4(TP73):c.1459del (p.Tyr487fs) rs2124544212
NM_005427.4(TP73):c.1771C>T (p.Arg591Cys) rs201509863
NM_005427.4(TP73):c.613G>T (p.Glu205Ter) rs2124478772
NM_005427.4(TP73):c.994C>T (p.Gln332Ter) rs2124524068

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