ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for Rasopathy

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Total variants: 5
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HGVS dbSNP
NM_006049.4(SNAPC5):c.*123_*126del
NM_006049.4(SNAPC5):c.*138C>T rs730880500
NM_006049.4(SNAPC5):c.*171T>C
NM_006049.4(SNAPC5):c.*183G>T rs752538915
NM_006049.4(SNAPC5):c.*982T>G

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