ClinVar Miner

List of variants reported as pathogenic for skeletal muscle disorder by Suma Genomics

Included ClinVar conditions (625):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) rs2114848887
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) rs2114890786
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter) rs2154147664
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854

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