ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as uncertain significance for Retinal degeneration

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.-65G>A rs883246 0.00656
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.-57C>T rs139821533 0.00259
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.-108G>A rs143241967 0.00115
NM_031433.4(MFRP):c.195C>T (p.Phe65=) rs138913508 0.00111
NM_031433.4(MFRP):c.191G>A (p.Arg64His) rs149376662 0.00106
NM_031433.4(MFRP):c.-49G>A rs201954533 0.00058
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
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.796C>T (p.Arg266Cys) rs138295825 0.00019
NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) rs142198552 0.00013
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_031433.4(MFRP):c.335C>T (p.Thr112Met) rs145883448 0.00008
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) rs369531002 0.00006
NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=) rs371634525 0.00004
NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) rs147490836 0.00004
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) rs200291895 0.00004
NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr) rs779732274 0.00003
NM_031433.4(MFRP):c.*198G>C rs886047825 0.00003
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_001278431.2(C1QTNF5):c.-165G>T rs886047823 0.00002
NM_001278431.2(C1QTNF5):c.-32A>T rs752870533 0.00002
NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys) rs751401877 0.00002
NM_031433.4(MFRP):c.941C>A (p.Thr314Asn) rs755974208 0.00002
NM_001278431.2(C1QTNF5):c.-68G>A rs886047822 0.00001
NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile) rs368962202 0.00001
NM_031433.4(MFRP):c.*652G>A rs886047824 0.00001
NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) rs529716845 0.00001
NM_031433.4(MFRP):c.786T>A (p.His262Gln) rs751729583 0.00001
NM_001278431.2(C1QTNF5):c.*251C>T rs886047816
NM_001278431.2(C1QTNF5):c.-43-13G>A rs886047821
NM_001278431.2(C1QTNF5):c.128G>A (p.Ser43Asn) rs886047819
NM_031433.4(MFRP):c.*126G>C rs886047827
NM_031433.4(MFRP):c.*1786C>A rs886047817
NM_031433.4(MFRP):c.*61G>T rs752071088
NM_031433.4(MFRP):c.1106C>T (p.Ala369Val) rs886047831
NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn) rs886047830
NM_031433.4(MFRP):c.1516-4G>A rs372014001
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193
NM_031433.4(MFRP):c.505C>T (p.His169Tyr) rs886047834
NM_031433.4(MFRP):c.63C>A (p.Phe21Leu) rs868687394
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.975+10G>A rs886047832

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