ClinVar Miner

List of variants reported as likely benign for hereditary skeletal muscle disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_001267550.2(TTN):c.36045G>A (p.Thr12015=) rs1209026573 0.00001
NM_001080449.3(DNA2):c.64_74+1del rs556723627
NM_001363810.1(VMA21):c.194G>C (p.Gly65Ala)
NM_004369.4(COL6A3):c.8404A>T (p.Thr2802Ser)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)

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