ClinVar Miner

List of variants in gene DSP reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028

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