ClinVar Miner

List of variants reported as benign for anemia (disease) by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_001142446.2(ANK1):c.2448C>T (p.Thr816=) rs2304880
NM_001142446.2(ANK1):c.3036G>C (p.Leu1012=) rs504574
NM_001142446.2(ANK1):c.414C>T (p.Asn138=) rs2304871
NM_001142446.2(ANK1):c.5219+16T>C rs508112
NM_001142446.2(ANK1):c.5388G>A (p.Val1796=) rs750625
NM_001142446.2(ANK1):c.5602-3T>C rs515071
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369

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