ClinVar Miner

List of variants in gene DSP reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1352G>T (p.Arg451Leu) rs786204294
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.5692G>A (p.Glu1898Lys) rs1759492368
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952

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