ClinVar Miner

List of variants studied for Autosomal recessive multiple pterygium syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726

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