ClinVar Miner

List of variants in gene TPP1 reported as uncertain significance by GeneDx

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882 0.00021
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938 0.00013
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=) rs757548236 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) rs374132017 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218 0.00006
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642 0.00006
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556 0.00005
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) rs1085307673 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188 0.00004
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) rs771113565 0.00004
NM_000391.4(TPP1):c.509-3C>T rs748156385 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300 0.00003
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020 0.00003
NM_000391.4(TPP1):c.1551+5G>A rs778756815 0.00003
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) rs141920079 0.00003
NM_000391.4(TPP1):c.891G>T (p.Arg297=) rs750527536 0.00003
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938 0.00002
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) rs794727482 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) rs780656523 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys) rs1476756779 0.00001
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) rs777267276 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) rs796053445 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) rs994636765 0.00001
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934 0.00001
NM_000391.4(TPP1):c.80A>G (p.Gln27Arg) rs1271784840 0.00001
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) rs984125804
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr) rs1266615275
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu) rs2134592126
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg) rs796053434
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr) rs1855561762
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp) rs760974302
NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu) rs796053443
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg) rs201847207
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) rs201126448
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) rs777744177
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly) rs796053435
NM_000391.4(TPP1):c.206C>G (p.Ser69Trp) rs769028551
NM_000391.4(TPP1):c.404G>A (p.Gly135Glu) rs796053436
NM_000391.4(TPP1):c.520C>T (p.His174Tyr) rs796053438
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.67C>T (p.Pro23Ser) rs1855632895
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr)
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr) rs1855592380
NM_000391.4(TPP1):c.773C>T (p.Ala258Val)
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) rs755386210

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