ClinVar Miner

List of variants in gene TPP1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 6
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NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) rs796053440
NM_000391.4(TPP1):c.887-18A>G rs935526225

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