ClinVar Miner

List of variants in gene PSAT1 reported as benign for Neu-Laxova syndrome 2

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Gene type:
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Total variants: 13
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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
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897 0.00971
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840 0.00097
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_058179.4(PSAT1):c.122-17T>C rs3739471 0.00021
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00013
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00009
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.869+17dup rs2118682102

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