ClinVar Miner

List of variants in gene IFT74 reported as pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter) rs377639405 0.00011
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_025103.4(IFT74):c.1570del (p.Asn523_Ile524insTer) rs890375954 0.00001
NC_000009.11:g.(?_26961966)_(26962105_?)del
NC_000009.11:g.(?_26980549)_(26980637_?)del
NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)
NM_025103.4(IFT74):c.1129G>T (p.Glu377Ter)
NM_025103.4(IFT74):c.1135_1136del (p.Lys379fs)
NM_025103.4(IFT74):c.1141C>T (p.Gln381Ter)
NM_025103.4(IFT74):c.1153C>T (p.Arg385Ter)
NM_025103.4(IFT74):c.1204C>T (p.Arg402Ter) rs372505229
NM_025103.4(IFT74):c.1348C>T (p.Gln450Ter)
NM_025103.4(IFT74):c.1383dup (p.Lys462Ter)
NM_025103.4(IFT74):c.1399C>T (p.Gln467Ter)
NM_025103.4(IFT74):c.1478C>A (p.Ser493Ter)
NM_025103.4(IFT74):c.23C>A (p.Ser8Ter)
NM_025103.4(IFT74):c.253A>T (p.Lys85Ter) rs2131525635
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
NM_025103.4(IFT74):c.459C>A (p.Tyr153Ter)
NM_025103.4(IFT74):c.509del (p.Met170fs)
NM_025103.4(IFT74):c.544C>T (p.Arg182Ter)
NM_025103.4(IFT74):c.592G>T (p.Glu198Ter) rs1828923734
NM_025103.4(IFT74):c.64G>T (p.Gly22Ter)
NM_025103.4(IFT74):c.686dup (p.Tyr230fs)
NM_025103.4(IFT74):c.69del (p.Arg23fs)
NM_025103.4(IFT74):c.771_774del (p.Lys258fs)
NM_025103.4(IFT74):c.843_844del (p.Leu281_Tyr282insTer)
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_025103.4(IFT74):c.915del (p.Glu306fs)
NM_025103.4(IFT74):c.916_919del (p.Glu306fs)
NM_025103.4(IFT74):c.952G>T (p.Glu318Ter)
NM_025103.4(IFT74):c.991G>T (p.Glu331Ter)

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