ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_000122.2(ERCC3):c.1828-36C>T rs113416031 0.00050
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_000122.2(ERCC3):c.1828-33C>T rs745775695 0.00007
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407 0.00004
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319

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