ClinVar Miner

List of variants studied 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: 24
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HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
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.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_005732.4(RAD50):c.551+19G>A rs17166050
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369

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