ClinVar Miner

List of variants studied for Nephronophthisis 15 by Invitae

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ClinVar version:
Total variants: 170
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HGVS dbSNP
NC_000011.10:g.(?_117407925)_(117412168_?)del
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn)
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr)
NM_014956.5(CEP164):c.1152A>G (p.Gln384=)
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile)
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro)
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.1320C>T (p.Ala440=) rs145815710
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys)
NM_014956.5(CEP164):c.1409+6A>G
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser)
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr) rs114396665
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser)
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys)
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys)
NM_014956.5(CEP164):c.150G>A (p.Ala50=) rs367761983
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val) rs144557388
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln)
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys)
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp)
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln)
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)
NM_014956.5(CEP164):c.1934+3C>T
NM_014956.5(CEP164):c.194+10C>T rs1468150420
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys)
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln)
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro)
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys)
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp)
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly)
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys)
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
NM_014956.5(CEP164):c.2283+2T>C
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met)
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)
NM_014956.5(CEP164):c.2362G>A (p.Val788Met)
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2493+1G>A rs778819060
NM_014956.5(CEP164):c.2494-3C>T
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu) rs201901144
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val)
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg)
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412
NM_014956.5(CEP164):c.2704G>A (p.Val902Met)
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly)
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu)
NM_014956.5(CEP164):c.2744G>A (p.Arg915His) rs147802563
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218
NM_014956.5(CEP164):c.2844+8A>G rs142545580
NM_014956.5(CEP164):c.2845-6T>G rs201515694
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp)
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu)
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu)
NM_014956.5(CEP164):c.2889G>T (p.Gln963His)
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala) rs56699807
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr)
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys) rs115387935
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro) rs138868323
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=)
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr)
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His) rs144910893
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr)
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His)
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile)
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser) rs138487235
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln) rs61745877
NM_014956.5(CEP164):c.3501+4A>G
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala)
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val)
NM_014956.5(CEP164):c.3609+3G>A
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe)
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu)
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr)
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser)
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys)
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His)
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile)
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe) rs148424362
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys)
NM_014956.5(CEP164):c.3786C>T (p.His1262=) rs373372717
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro) rs756182128
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro) rs758240656
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys)
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu)
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala)
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324
NM_014956.5(CEP164):c.4140C>T (p.Ser1380=)
NM_014956.5(CEP164):c.4144C>T (p.Leu1382=)
NM_014956.5(CEP164):c.4163+6C>T
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln)
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val)
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His) rs74653460
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)
NM_014956.5(CEP164):c.499G>A (p.Val167Met)
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271
NM_014956.5(CEP164):c.552+1G>C
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu)
NM_014956.5(CEP164):c.687G>C (p.Gln229His)
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
NM_014956.5(CEP164):c.796_798AAG[1] (p.Lys267del)
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly) rs1411607770
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg)
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn)

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