ClinVar Miner

List of variants reported by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro) rs201284617 0.00236
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) rs753221661 0.00006
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) rs765305996 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339 0.00001
NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399 0.00001
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter) rs753579827 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_006767.4(LZTR1):c.1146G>A (p.Ser382=) rs751444145 0.00001
NM_014694.4(ADAMTSL2):c.-151+2T>C rs1432091144 0.00001
NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys) rs1166449446 0.00001
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NC_000001.10:g.85569702_85585573del
NC_000002.11:g.165492423_165973543dup
NC_000002.11:g.166679228_166818452inv
NC_000002.11:g.39053852_42501893dup
NC_000003.12:g.36993510_36999509del
NC_000005.10:g.55247753A>G rs1579734448
NC_000005.9:g.136320037_136380192dup
NC_000005.9:g.53180658_54552379dup
NC_000007.13:g.30439214_30632407dup
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
NC_000008.11:g.38463238_38470748del
NC_000009.11:g.6558199_6619973dup
NC_000010.10:g.102928083_103377947dup
NC_000011.10:g.65259530_65263529del
NC_000016.10:g.86072090_86072129dup rs1567518954
NC_000017.11:g.17234906_17243014del
NC_000018.9:g.67742689_67765169dup
NC_000019.9:g.1406030_3597207dup
NC_000020.10:g.157772_706326dup
NC_000023.11:g.86041956_86048370inv
NM_000059.4(BRCA2):c.68-352_317-1637del
NM_000089.4(COL1A2):c.487-183_594+240del
NM_000280.4:c.1267A>T
NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg) rs1570980551
NM_000977.4(RPL13):c.477+1G>A rs1597675888
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_000977.4(RPL13):c.569G>T (p.Arg190Leu) rs374646539
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)
NM_001163435.3(TBCK):c.658+1G>A rs1579395680
NM_001167740.2(SMYD3):c.814-5812_814-3813del
NM_001270454.2(WWP2):c.1683-866A>G rs1567443039
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001353108.3(CEP63):c.595del (p.Glu199fs) rs2109591981
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val) rs1565379048
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr) rs1265669915
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn) rs1565394254
NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs193922929
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter) rs1558651680
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr) rs762408881
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser) rs1555303073
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) rs1580817729
NM_002381.5(MATN3):c.224-2153_1168+903dup
NM_002508.3(NID1):c.2129-2427_2405-658del
NM_002689.4(POLA2):c.1271C>T (p.Pro424Leu)
NM_002689.4(POLA2):c.287T>C (p.Ile96Thr)
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4:c.47854delG
NM_004035.7(ACOX1):c.1729-1G>A rs566377861
NM_004826.4(ECEL1):c.2228G>T (p.Arg743Met) rs1575074612
NM_005260.7(GDF9):c.-616_-142dup rs1581252159
NM_006493.4:c.679C>T
NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe) rs760064852
NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) rs1594291868
NM_007129.5:c.264T>G
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs) rs1597454239
NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)
NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)
NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His) rs1831023991
NM_014694.4(ADAMTSL2):c.1998C>G (p.Cys666Trp)
NM_014694.4(ADAMTSL2):c.2137T>C (p.Cys713Arg)
NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)
NM_014694.4(ADAMTSL2):c.2626C>G (p.Arg876Gly)
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)
NM_014694.4(ADAMTSL2):c.502G>A (p.Gly168Ser)
NM_014694.4(ADAMTSL2):c.718C>T (p.Arg240Ter)
NM_014694.4(ADAMTSL2):c.800G>T (p.Gly267Val)
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_015215.4(CAMTA1):c.511-18459_511-15460del
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) rs1559369181
NM_015681.6(B9D1):c.285_341+154del rs1598057395
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
NM_022114.4(PRDM16):c.439-11715_439-4716del
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) rs1581535605
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
NM_033109.5(PNPT1):c.420del (p.Leu141fs) rs1572834021
NM_033109.5:c.652A>T
NM_057157.2:c.1184T>C
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_152269.5(MTRFR):c.-28-1489_283-968del
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter) rs778139192
Single allele

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