ClinVar Miner

List of variants reported for Costello syndrome by Blueprint Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757

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