List of variants in gene ATR reported as uncertain significance for Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser)	rs138350940	0.00042
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)	rs78895258	0.00036
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile)	rs377689383	0.00013
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala)	rs201492267	0.00003
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)	rs763130593	0.00001
NM_001184.4(ATR):c.7349+2T>C	rs200556378	0.00001
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del)	rs779715723

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