ClinVar Miner

List of variants in gene TTC19 reported by GeneDx

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_017775.4(TTC19):c.462+246C>T rs2302415 0.65008
NM_017775.4(TTC19):c.582-60A>G rs3760297 0.60131
NM_017775.4(TTC19):c.994+71G>A rs35168566 0.59018
NM_017775.4(TTC19):c.313-39A>G rs3760298 0.46016
NM_017775.4(TTC19):c.463-233G>A rs2041460 0.42974
NM_017775.4(TTC19):c.462+247T>C rs11078321 0.42840
NM_017775.4(TTC19):c.463-259T>C rs6502483 0.13124
NM_017775.4(TTC19):c.424-155C>T rs8076538 0.12962
NM_017775.4(TTC19):c.462+283G>A rs2302416 0.09023
NM_017775.4(TTC19):c.676+106A>G rs8078888 0.08649
NM_017775.4(TTC19):c.677-109T>C rs11078324 0.08148
NM_017775.4(TTC19):c.994+117A>G rs56195102 0.08133
NM_017775.4(TTC19):c.*46T>C rs3744328 0.08127
NM_017775.4(TTC19):c.423+257G>A rs8072652 0.06492
NM_017775.4(TTC19):c.581+188G>A rs56190835 0.06038
NM_017775.4(TTC19):c.313-127G>C rs73276085 0.03461
NM_017775.4(TTC19):c.573G>A (p.Ala191=) rs58517927 0.03420
NM_017775.4(TTC19):c.676+259T>C rs58206797 0.03408
NM_017775.4(TTC19):c.313-151T>C rs73978586 0.03005
NM_017775.4(TTC19):c.677-116T>C rs115818258 0.02053
NM_017775.4(TTC19):c.677-153T>C rs73981409 0.02030
NM_017775.4(TTC19):c.*226T>C rs73981412 0.01995
NM_017775.4(TTC19):c.312+310C>A rs115330129 0.01509
NM_017775.4(TTC19):c.676+251T>C rs116207391 0.01149
NM_017775.4(TTC19):c.519+107G>A rs28663172 0.01147
NM_017775.4(TTC19):c.424-72G>A rs144889411 0.01017
NM_017775.4(TTC19):c.423+96T>C rs143282989 0.01002
NM_017775.4(TTC19):c.*195A>G rs116412774 0.00988
NM_017775.4(TTC19):c.758C>T (p.Pro253Leu) rs78882347 0.00878
NM_017775.4(TTC19):c.832-218T>C rs116604417 0.00822
NM_017775.4(TTC19):c.463-313T>C rs78713454 0.00737
NM_017775.4(TTC19):c.676+167A>C rs79154513 0.00727
NM_017775.3(TTC19):c.-107A>T rs79724115 0.00726
NM_017775.4(TTC19):c.424-150G>T rs115245517 0.00596
NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile) rs78193493 0.00419
NM_017775.4(TTC19):c.677-263A>G rs144865422 0.00316
NM_017775.4(TTC19):c.519+129T>C rs141297979 0.00312
NM_017775.4(TTC19):c.424-147T>G rs149887968 0.00267
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) rs147111211 0.00202
NM_017775.4(TTC19):c.*83G>A rs184431150 0.00183
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu) rs143293913 0.00156
NM_017775.4(TTC19):c.911G>C (p.Arg304Thr) rs73981411 0.00151
NM_017775.4(TTC19):c.*27G>A rs150843177 0.00067
NM_017775.4(TTC19):c.787G>T (p.Ala263Ser) rs141892030 0.00038
NM_017775.4(TTC19):c.723C>T (p.Asp241=) rs149658292 0.00029
NM_017775.4(TTC19):c.313-4T>C rs374666326 0.00022
NM_017775.4(TTC19):c.713T>C (p.Met238Thr) rs140719848 0.00012
NM_017775.4(TTC19):c.865C>T (p.Leu289=) rs138508099 0.00009
NM_017775.3(TTC19):c.-80C>T rs770551362 0.00006
NM_017775.4(TTC19):c.417T>C (p.Tyr139=) rs766780467 0.00006
NM_017775.4(TTC19):c.582-14A>G rs372132660 0.00006
NM_017775.4(TTC19):c.375C>T (p.Leu125=) rs149339696 0.00004
NM_017775.4(TTC19):c.997C>T (p.Arg333Ter) rs192522753 0.00004
NM_017775.4(TTC19):c.463-7C>G rs1351569328 0.00001
NM_017775.4(TTC19):c.304C>T (p.Arg102Ter) rs961191529
NM_017775.4(TTC19):c.313-181G>A rs76516448
NM_017775.4(TTC19):c.411C>T (p.Tyr137=) rs763402516
NM_017775.4(TTC19):c.424-21_424-20del rs772421073
NM_017775.4(TTC19):c.520-42dup rs112911249
NM_017775.4(TTC19):c.582-10T>A rs1227767417
NM_017775.4(TTC19):c.593C>G (p.Ala198Gly) rs863224244
NM_017775.4(TTC19):c.601_604del (p.Gly201fs) rs794726691
NM_017775.4(TTC19):c.646_647del (p.Glu216fs)
NM_017775.4(TTC19):c.832-13_832-10del rs774007482

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