ClinVar Miner

List of variants in gene combination MYOT, PKD2L2-DT 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: 20
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NM_006790.2(MYOT):c.*190C>G rs74711051
NM_006790.2(MYOT):c.*463C>T rs149535236
NM_006790.2(MYOT):c.*98G>A rs4288
NM_006790.2(MYOT):c.-233C>A rs186433387
NM_006790.2(MYOT):c.-251A>G rs6863775
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.1190+12A>G rs183456886
NM_006790.2(MYOT):c.1190+7T>C rs192405601
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.240C>T (p.Asn80=) rs529067126
NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) rs142416150
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.630G>A (p.Ser210=) rs375308029
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049
NM_006790.3(MYOT):c.1325-4T>A rs544136408
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689

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