ClinVar Miner

List of variants reported as benign for aplastic anemia by Mendelics

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
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_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
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_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
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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