ClinVar Miner

List of variants studied for anemia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (292):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369

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