ClinVar Miner

List of variants in gene DSP reported as likely pathogenic by Blueprint Genetics

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.4954del (p.Glu1652fs)
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.942del (p.Arg315fs)

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