ClinVar Miner

List of variants in gene DES reported as likely pathogenic for not provided

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.254_255insT (p.Gly86fs) rs1273708097 0.00001
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1223del (p.Leu408fs) rs886041454
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.130G>A (p.Gly44Ser) rs1064794869
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1371+1G>C rs748323823
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) rs60794845
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) rs794728991
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.364T>G (p.Tyr122Asp) rs794728994
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.604del (p.Glu202fs)
NM_001927.4(DES):c.735+2T>C
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.7C>T (p.Gln3Ter) rs1954358233
NM_001927.4(DES):c.816dup (p.Ala273fs) rs2125167896
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891

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