ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as pathogenic by Invitae

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.1124+1G>T rs145719998 0.00011
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_031433.4(MFRP):c.642-2A>G rs376898612 0.00006
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) rs150232843 0.00004
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs) rs763385432 0.00003
NM_031433.4(MFRP):c.1408C>T (p.Gln470Ter) rs985358609 0.00002
NM_031433.4(MFRP):c.102C>A (p.Cys34Ter) rs1033747538 0.00001
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter) rs1422497202 0.00001
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter) rs1359404443 0.00001
NM_031433.4(MFRP):c.397G>T (p.Glu133Ter) rs770341402 0.00001
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) rs121908189 0.00001
NC_000011.9:g.(?_119217150)_(119217243_?)del
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu) rs1950474024
NM_031433.4(MFRP):c.1078G>T (p.Glu360Ter)
NM_031433.4(MFRP):c.1090_1094del (p.Thr364fs) rs1342453275
NM_031433.4(MFRP):c.1124+1G>A
NM_031433.4(MFRP):c.1150del (p.His384fs)
NM_031433.4(MFRP):c.1150dup (p.His384fs) rs587776595
NM_031433.4(MFRP):c.1228_1234del (p.Thr410fs)
NM_031433.4(MFRP):c.1333_1334del (p.Asp445fs)
NM_031433.4(MFRP):c.1506_1507del (p.Ser502fs)
NM_031433.4(MFRP):c.287_291del (p.Pro96fs) rs2135374097
NM_031433.4(MFRP):c.298del (p.Ala100fs) rs750894392
NM_031433.4(MFRP):c.313del (p.Leu105fs) rs2135374023
NM_031433.4(MFRP):c.431_443dup (p.Ser149fs) rs2135373641
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.498dup (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.499_500dup (p.Asn167fs)
NM_031433.4(MFRP):c.500del (p.Asn167fs)
NM_031433.4(MFRP):c.577_578del (p.Ser193fs)
NM_031433.4(MFRP):c.629del (p.Gly210fs) rs1565295426
NM_031433.4(MFRP):c.641+1G>A rs1226217440
NM_031433.4(MFRP):c.662_663insT (p.Thr223fs)
NM_031433.4(MFRP):c.666del (p.Thr223fs) rs1435204327
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_031433.4(MFRP):c.909dup (p.Asn304fs)
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_031433.4(MFRP):c.987G>A (p.Trp329Ter) rs1166512859

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