ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Mendelics

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2125-48T>C
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364

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