List of variants reported as likely pathogenic by Centre de Genetique Humaine, Institut de Pathologie et de Genetique

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	rs370058829	0.00008
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	rs771594651	0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	rs775163147	0.00001
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)	rs267608243
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)	rs2150236110
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)	rs2107040144
NM_000515.5(GH1):c.254C>T (p.Pro85Leu)	rs1567803095
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)	rs1781502574
NM_001011713.3(NAA30):c.452C>A (p.Pro151His)	rs2139756536
NM_002691.4(POLD1):c.3214A>G (p.Thr1072Ala)	rs2122509398
NM_004984.4(KIF5A):c.262A>G (p.Thr88Ala)
NM_005052.3(RAC3):c.276T>A (p.Asn92Lys)
NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)
NM_016213.4:c.1359_1575del
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter)	rs2140297426

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