ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_016434.3(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NR_001566.1(TERC):n.306T>G rs1553915591
NR_001566.1(TERC):n.443C>A rs1553915577

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