ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 22

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile) rs3429 0.09898
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg) rs11555693 0.09345
NM_025103.4(IFT74):c.165A>G (p.Ile55Met) rs10812505 0.05909
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) rs62542664 0.00104
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025103.4(IFT74):c.94T>C (p.Ser32Pro) rs201259858 0.00002
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_025103.4(IFT74):c.1492A>G (p.Ile498Val) rs1381354359 0.00001
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter) rs1391036863 0.00001
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_025103.4(IFT74):c.1624-1G>A rs2489749390
NM_025103.4(IFT74):c.371_372del (p.Gln124fs) rs2131541114
NM_025103.4(IFT74):c.909dup (p.Glu304fs)

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