ClinVar Miner

List of variants in gene DSP reported by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00647
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00524
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00164
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00010
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00002
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962

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