ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Mendelics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153

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