ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant distal myopathy by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000007.13:g.(?_128475370)_(128478867_?)del
NM_001458.4(FLNC):c.1548_1549+2del rs763330423
NM_001458.4(FLNC):c.1549+2T>G rs111806457
NM_001458.4(FLNC):c.1676+1G>A rs111452612
NM_001458.4(FLNC):c.2265+1G>A rs1585157354
NM_001458.4(FLNC):c.2389+2T>C rs112903432
NM_001458.4(FLNC):c.2550+2T>C rs113972676
NM_001458.4(FLNC):c.3193-2A>G rs749889670
NM_001458.4(FLNC):c.3964+1G>A
NM_001458.4(FLNC):c.4128-2_4128-1del
NM_001458.4(FLNC):c.4952-2A>T rs774945928
NM_001458.4(FLNC):c.5199+1G>C
NM_001458.4(FLNC):c.5398+1G>C
NM_001458.4(FLNC):c.5843-2A>G
NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.4(FLNC):c.699+1G>A rs1562991776
NM_001458.4(FLNC):c.6997+1G>T rs1585169973
NM_001458.4(FLNC):c.7780+1G>A rs1563005607
NM_001458.5(FLNC):c.1047+1G>A
NM_001458.5(FLNC):c.1047+1G>T
NM_001458.5(FLNC):c.4738-1G>A
NM_001458.5(FLNC):c.5199+1G>T
NM_001458.5(FLNC):c.5842+2T>G
NM_001458.5(FLNC):c.6362-1G>T
NM_001458.5(FLNC):c.7562-1G>A
NM_001458.5(FLNC):c.7780+2T>C
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter) rs1585173340
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1288+1G>A rs112224037
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.2T>C (p.Met1Thr)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.735+1G>T rs397516698

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