ClinVar Miner

List of variants studied for Neu-Laxova syndrome 2 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693

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