ClinVar Miner

List of variants reported as benign by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000150.4(FUT6):c.370C>T (p.Pro124Ser) rs778805 0.43749
NM_005525.4(HSD11B1):c.332-29T>G rs12086634 0.19650
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp) rs35424709 0.07775
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala) rs61740566 0.05698
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000511.6(FUT2):c.73A>G (p.Ile25Val) rs1800021 0.03636
NM_007068.4(DMC1):c.598A>G (p.Met200Val) rs2227914 0.03604
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_015545.4(PTCD1):c.307C>T (p.Arg103Cys) rs150504114 0.00853
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001919.4(ECI1):c.227C>T (p.Thr76Met) rs112729404 0.00760
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859 0.00469
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001127898.4(CLCN5):c.316-17T>G rs56117808 0.00404
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273 0.00211
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_176822.4(NLRP14):c.257A>T (p.Asp86Val) rs199735773 0.00001
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000150.4(FUT6):c.907C>G (p.Arg303Gly) rs61147939
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001393986.1(PRDM2):c.2107_2109dup (p.Pro703dup) rs2308040
NM_002180.3(IGHMBP2):c.256+138A>G
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004711.5(SYNGR1):c.607_608insACA (p.Pro202_Thr203insAsn) rs57910921
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_032861.4(SERAC1):c.*258G>A

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