ClinVar Miner

List of variants reported as likely pathogenic for DNA repair disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_058216.3(RAD51C):c.404+2T>C rs730881931

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