ClinVar Miner

List of variants in gene TPP1 reported as pathogenic by GeneDx

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Total variants: 21
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HGVS dbSNP
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.274del (p.Ser92fs) rs1064793806
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs) rs1554902020
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter) rs1131691539
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487

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