ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_005591.3(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005591.3(MRE11):c.315-4del rs35062043

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