ClinVar Miner

List of variants reported as likely benign for Short-rib thoracic dysplasia 7 with or without polydactyly

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01376
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00234
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00195
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00104
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00027
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062

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