List of variants in gene SCARF2 studied for multiple congenital anomalies/dysmorphic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly)	rs874101	0.60739
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)	rs9680797	0.02487
NM_182895.5(SCARF2):c.1907C>T (p.Ala636Val)	rs984158225	0.00005
NM_182895.5(SCARF2):c.1822A>T (p.Ser608Cys)	rs900419088	0.00001
NM_182895.5(SCARF2):c.2181C>G (p.Pro727=)	rs1171701467	0.00001
NM_182895.5(SCARF2):c.1104C>A (p.Tyr368Ter)	rs921038430
NM_182895.5(SCARF2):c.1328_1329del (p.Val443fs)	rs587776902
NM_182895.5(SCARF2):c.1425-11dup	rs773570373
NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg)	rs587777657
NM_182895.5(SCARF2):c.1978G>T (p.Ala660Ser)	rs150746534
NM_182895.5(SCARF2):c.2187G>C (p.Glu729Asp)	rs762551525
NM_182895.5(SCARF2):c.220G>T (p.Glu74Ter)	rs2146133110
NM_182895.5(SCARF2):c.2236dup (p.Arg746fs)	rs2146119376
NM_182895.5(SCARF2):c.2247C>G (p.Gly749=)	rs1421018530
NM_182895.5(SCARF2):c.2248dup (p.Leu750fs)	rs2146119293
NM_182895.5(SCARF2):c.2287dup (p.Ala763fs)	rs2146119159
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly)	rs874100
NM_182895.5(SCARF2):c.2531del (p.Gln844fs)	rs587777658
NM_182895.5(SCARF2):c.25del (p.Ala9fs)	rs1215759021
NM_182895.5(SCARF2):c.3G>A (p.Met1Ile)
NM_182895.5(SCARF2):c.441_457del (p.Trp148fs)	rs786205883
NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1])	rs2146131503
NM_182895.5(SCARF2):c.649T>C (p.Cys217Arg)
NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp)	rs2146130979
NM_182895.5(SCARF2):c.773G>A (p.Cys258Tyr)	rs387907086
NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp)	rs1241075295

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