ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_031433.4(MFRP):c.-31G>A rs883247 0.56583
NM_031433.4(MFRP):c.-88C>T rs883245 0.49359
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_001278431.2(C1QTNF5):c.*62A>T rs9640 0.16921
NM_031433.4(MFRP):c.1387+3G>A rs11217241 0.08734
NM_031433.4(MFRP):c.954G>A (p.Leu318=) rs35885438 0.04136
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) rs145881139 0.00888
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_031433.4(MFRP):c.-44G>A rs79836575 0.00454
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.*1237G>A rs148291350 0.00207
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.*483T>C rs147285871 0.00143
NM_001278431.2(C1QTNF5):c.-199G>A rs75463316 0.00135
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.-49G>A rs201954533 0.00058
NM_001278431.2(C1QTNF5):c.214+9G>A rs771777653 0.00039
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.*235G>A rs377666251 0.00016
NM_001278431.2(C1QTNF5):c.*34C>G rs200181343 0.00005
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_031433.4(MFRP):c.1124+11C>G rs199473709 0.00002
NM_031433.4(MFRP):c.*1190C>T rs540768941 0.00001
NM_001278431.2(C1QTNF5):c.-48G>C rs185696769
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376

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