ClinVar Miner

List of variants in gene DSP reported by Biesecker Lab/Human Development Section,National Institutes of Health

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Gene type:
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Total variants: 49
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HGVS dbSNP
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr) rs200409452
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
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.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) rs201964660
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869
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.782C>T (p.Ala261Val) rs139509870
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val) rs786205417
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693

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