ClinVar Miner

List of variants in gene DES reported as benign for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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NM_001927.3(DES):c.*762T>C rs11685408
NM_001927.4(DES):c.*468G>T rs73085265
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.578+11G>A rs111548596
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800

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