ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Sema4, Sema4

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) rs2151304648
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_018062.4(FANCL):c.1A>G (p.Met1Val) rs772037896
NM_022725.4(FANCF):c.1A>C (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.1A>T (p.Met1Leu) rs1046564488
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964

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