ClinVar Miner

List of variants in gene DES reported as likely 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: 101
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HGVS dbSNP
NM_001927.4(DES):c.*662G>A rs116635264
NM_001927.4(DES):c.1008C>T (p.Asp336=) rs531293539
NM_001927.4(DES):c.1011C>T (p.Ala337=) rs369537705
NM_001927.4(DES):c.1024-7C>T rs779098835
NM_001927.4(DES):c.1024-9C>T rs201552590
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1041G>A (p.Arg347=)
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280
NM_001927.4(DES):c.1059G>A (p.Glu353=) rs1575014856
NM_001927.4(DES):c.1101T>C (p.Ile367=) rs1575014904
NM_001927.4(DES):c.1134G>A (p.Lys378=) rs1575014950
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1179C>T (p.Asn393=) rs955390251
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349
NM_001927.4(DES):c.1191C>T (p.Ala397=)
NM_001927.4(DES):c.1209C>T (p.Ala403=)
NM_001927.4(DES):c.1227G>A (p.Leu409=) rs143954788
NM_001927.4(DES):c.1227G>T (p.Leu409=)
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982
NM_001927.4(DES):c.1266C>A (p.Thr422=)
NM_001927.4(DES):c.1269C>T (p.Tyr423=) rs765867148
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293
NM_001927.4(DES):c.1281C>T (p.Asn427=)
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962
NM_001927.4(DES):c.12C>G (p.Ala4=)
NM_001927.4(DES):c.1335G>A (p.Thr445=)
NM_001927.4(DES):c.1359A>C (p.Thr453=)
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.1407G>A (p.Val469=)
NM_001927.4(DES):c.150G>T (p.Thr50=) rs1179760415
NM_001927.4(DES):c.195C>T (p.Gly65=) rs1256584430
NM_001927.4(DES):c.210G>A (p.Arg70=) rs761255472
NM_001927.4(DES):c.217C>A (p.Arg73=)
NM_001927.4(DES):c.225G>A (p.Gly75=)
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.4(DES):c.258C>G (p.Gly86=) rs994454109
NM_001927.4(DES):c.285C>T (p.Asp95=)
NM_001927.4(DES):c.291G>A (p.Val97=)
NM_001927.4(DES):c.306G>A (p.Leu102=)
NM_001927.4(DES):c.348T>C (p.Asn116=)
NM_001927.4(DES):c.357C>T (p.Phe119=)
NM_001927.4(DES):c.360C>T (p.Ala120=) rs1553603246
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.444G>A (p.Pro148=)
NM_001927.4(DES):c.447G>C (p.Thr149=) rs1575013396
NM_001927.4(DES):c.45C>T (p.Arg15=) rs1575012917
NM_001927.4(DES):c.489G>A (p.Arg163=) rs1448975712
NM_001927.4(DES):c.519C>A (p.Arg173=)
NM_001927.4(DES):c.525C>A (p.Arg175=)
NM_001927.4(DES):c.540C>T (p.Arg180=) rs757644636
NM_001927.4(DES):c.543C>T (p.Asp181=)
NM_001927.4(DES):c.552C>T (p.Leu184=) rs1050510822
NM_001927.4(DES):c.559C>T (p.Leu187=)
NM_001927.4(DES):c.578+10C>T rs969392028
NM_001927.4(DES):c.579-5C>A rs886042889
NM_001927.4(DES):c.598T>C (p.Leu200=) rs1320454372
NM_001927.4(DES):c.600G>A (p.Leu200=) rs1575014014
NM_001927.4(DES):c.60G>A (p.Gly20=)
NM_001927.4(DES):c.615G>A (p.Glu205=) rs1295010624
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.639+13_639+15del rs876657448
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068
NM_001927.4(DES):c.640-10C>T
NM_001927.4(DES):c.640-4C>G rs375680081
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680
NM_001927.4(DES):c.690A>G (p.Glu230=) rs142145822
NM_001927.4(DES):c.696C>T (p.Leu232=)
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078
NM_001927.4(DES):c.711G>A (p.Ala237=) rs757102249
NM_001927.4(DES):c.735+10G>A
NM_001927.4(DES):c.736-8C>A rs140375681
NM_001927.4(DES):c.736-9G>A rs1553603433
NM_001927.4(DES):c.75A>T (p.Pro25=)
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.816C>T (p.Ala272=) rs759823001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850
NM_001927.4(DES):c.840G>A (p.Gln280=)
NM_001927.4(DES):c.855G>A (p.Ala285=)
NM_001927.4(DES):c.858T>C (p.Ala286=)
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500
NM_001927.4(DES):c.897+10C>T
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.898-5C>T rs371053066
NM_001927.4(DES):c.898-6C>T
NM_001927.4(DES):c.912C>A (p.Thr304=)
NM_001927.4(DES):c.912C>T (p.Thr304=) rs778826152
NM_001927.4(DES):c.933C>T (p.Asn311=) rs756434148
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001927.4(DES):c.939C>T (p.Ala313=) rs1060504848
NM_001927.4(DES):c.993C>T (p.Tyr331=)
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810

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