ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00150
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_013352.4(DSE):c.2097G>A (p.Trp699Ter)
NM_013352.4(DSE):c.2364G>C (p.Glu788Asp)
NM_013352.4(DSE):c.2699A>G (p.Tyr900Cys)

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