List of variants in gene SYNE1 reported as uncertain significance for congenital limb malformation

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)	rs138481762	0.00051
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)	rs140780725	0.00021
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)	rs774776856	0.00008
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)	rs557729565	0.00006
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)	rs772622270	0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)	rs769420760	0.00005
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)	rs776733924	0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)	rs368607560	0.00004
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)	rs375917264	0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)	rs772761179	0.00003
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)	rs772396355	0.00002
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)	rs758415122	0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)	rs767294741	0.00001
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly)	rs151281204	0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)	rs750101869	0.00001
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)	rs746655221
NM_182961.4(SYNE1):c.-224+1G>A
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu)	rs1207624769
NM_182961.4(SYNE1):c.12955A>C (p.Ser4319Arg)	rs1267678977
NM_182961.4(SYNE1):c.25523A>G (p.Glu8508Gly)	rs2057176996
NM_182961.4(SYNE1):c.4003A>G (p.Ile1335Val)
NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys)
NM_182961.4(SYNE1):c.4828A>T (p.Thr1610Ser)
NM_182961.4(SYNE1):c.6724-3C>T
NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile)	rs2097408369

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