List of variants reported as likely pathogenic for Neu-Laxova syndrome 2

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_058179.4(PSAT1):c.122-1G>C	rs772958302	0.00001
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)	rs2489629517	0.00001
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)	rs199998249	0.00001
NM_058179.4(PSAT1):c.43_60+9del	rs919827103
NM_058179.4(PSAT1):c.570+2T>C	rs2489645698
NM_058179.4(PSAT1):c.570+2_570+15del	rs2118643983
NM_058179.4(PSAT1):c.571-1G>A	rs1828216198
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)	rs2489650770

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