ClinVar Miner

List of variants in gene DSP reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000 0.00001
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr) rs200409452
NM_004415.4(DSP):c.2958G>T (p.Gln986His) rs786205415
NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu) rs745849763
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val) rs786205417

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