ClinVar Miner

List of variants in gene TPP1 reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195 0.00002
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1075+2T>C rs1855583482
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000391.4(TPP1):c.1146-199G>A
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) rs1554901472
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) rs2134590423
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.687+1G>C rs1465284719
NM_000391.4(TPP1):c.688-1G>T rs1855593862
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) rs1405952769
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.89+1G>A rs1855631590
NM_000391.4(TPP1):c.899del (p.Gly300fs) rs2134593910
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000391.4(TPP1):c.987_989del (p.Glu329del) rs1222920812

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