ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374

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