List of variants reported as uncertain significance for Cole-Carpenter syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)	rs146773641	0.00071
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val)	rs375796795	0.00019
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)	rs2038728463
NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)
NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)
NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)	rs2038725295
NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)
NM_000918.4(P4HB):c.718T>C (p.Phe240Leu)	rs1343072696
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)
NM_014822.4(SEC24D):c.1614-10T>A	rs1404593679
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)

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