ClinVar Miner

List of variants in gene TPP1 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957

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