ClinVar Miner

List of variants studied for Rhabdoid tumor predisposition syndrome 2 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462

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