List of variants in gene CERS1, GDF1 studied for dextro-looped transposition of the great arteries

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)	rs374016704	0.00028
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp)	rs573559104	0.00015
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro)	rs2055941159	0.00001
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro)	rs868026629	0.00001
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn)	rs1429110767	0.00001
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)	rs768027510
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter)	rs900625437
NM_001492.6(GDF1):c.537del (p.Pro180fs)
NM_001492.6(GDF1):c.649C>G (p.Leu217Val)	rs2055909840
NM_021267.5(CERS1):c.*1120G>A	rs2145985085

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