List of variants in gene combination CERS1, GDF1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.952G>A (p.Ala318Thr)	rs1064793138	0.00002
NM_001492.6(GDF1):c.371G>T (p.Cys124Phe)	rs1057524707	0.00001
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)	rs768027510
NM_001492.6(GDF1):c.1092G>A (p.Met364Ile)	rs2145983859
NM_001492.6(GDF1):c.401C>G (p.Ser134Trp)	rs1064793136
NM_001492.6(GDF1):c.579_678del (p.Val194fs)	rs2055908725
NM_001492.6(GDF1):c.776_801del (p.Leu259fs)	rs1555702261
NM_001492.6(GDF1):c.909dup (p.Val304fs)	rs606231383

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