ClinVar Miner

List of variants studied for autosomal recessive disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) rs377393431 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857 0.00001
Multiple alleles
NC_000005.10:g.(42700003_42711206)_(42719424_?)del
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.644-5T>A rs2100819923
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001080414.4(CCDC88C):c.161+5G>A rs1887078001
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001278064.2(GRM1):c.26dup (p.Ala11fs) rs758809498
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) rs2090805858
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr) rs2104107559
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
NM_001384140.1(PCDH15):c.4671+1393G>C
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.82+2T>C rs879253740
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly) rs764254189
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) rs1561894798
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter) rs997408852
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.9380+5G>C
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His) rs773649192
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689

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