List of variants reported as benign for Neu-Laxova syndrome

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Total variants: 23

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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_006623.4(PHGDH):c.1209+149A>T	rs627070	0.70206
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)	rs543703	0.69798
NM_058179.4(PSAT1):c.297T>G (p.Ala99=)	rs3739474	0.62693
NM_006623.3(PHGDH):c.-140A>G	rs561931	0.61476
NM_006623.4(PHGDH):c.139-13T>C	rs894078	0.01680
NM_006623.4(PHGDH):c.792+6T>G	rs146953046	0.01118
NM_058179.4(PSAT1):c.348G>A (p.Lys116=)	rs41277897	0.00971
NM_006623.4(PHGDH):c.357-17T>C	rs76447100	0.00863
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=)	rs144484007	0.00191
NM_006623.4(PHGDH):c.510+6A>G	rs371736796	0.00133
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_006623.3(PHGDH):c.-101G>C	rs562038
NM_006623.4(PHGDH):c.792+16C>T	rs2101199027
NM_058179.4(PSAT1):c.571-4dup	rs536197677
NM_058179.4(PSAT1):c.869+17dup	rs2118682102

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