ClinVar Miner

List of variants reported as likely pathogenic by Human Genetics Unit,University of Colombo

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Total variants: 8
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NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu)
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu)
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) rs1114167422
NM_014874.4(MFN2):c.701T>A (p.Met234Lys)
NM_024675.3(PALB2):c.2768T>G (p.Val923Gly) rs1597082876

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