List of variants reported as likely pathogenic for Neu-Laxova syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6

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

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