List of variants in gene ATR studied for Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001184.4(ATR):c.6339A>G (p.Val2113=)	rs7635479	0.00964
NM_001184.4(ATR):c.7504-16A>G	rs111927479	0.00279
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.7902C>T (p.Cys2634=)	rs553715098	0.00008
NM_001184.4(ATR):c.7192+19A>G	rs376334522	0.00005
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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