ClinVar Miner

List of variants reported as benign for hematologic disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
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_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
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_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
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_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369

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