ClinVar Miner

List of variants in gene RHBDF2 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.2064+216T>C rs12942767 0.88297
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) rs3744045 0.79851
NM_001005498.4(RHBDF2):c.150+279C>T rs3809698 0.76524
NM_001005498.4(RHBDF2):c.150+117T>C rs3826288 0.73068
NM_001005498.4(RHBDF2):c.151-109C>G rs3826287 0.43888
NM_001005498.4(RHBDF2):c.-21-64G>A rs11870168 0.43793
NM_001005498.4(RHBDF2):c.151-39G>T rs3809694 0.43017
NM_001005498.4(RHBDF2):c.801+145dup rs3833088 0.39072
NM_001005498.4(RHBDF2):c.1116-75C>T rs12951122 0.37654
NM_001005498.4(RHBDF2):c.*698C>G rs8150 0.33822
NM_001005498.4(RHBDF2):c.-14G>A rs12943385 0.12261
NM_001005498.4(RHBDF2):c.*619A>G rs2289802 0.07609
NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=) rs61742551 0.04902
NM_001005498.4(RHBDF2):c.*511G>A rs11553544 0.03486
NM_001005498.4(RHBDF2):c.273-50C>T rs150316415 0.03481
NM_001005498.4(RHBDF2):c.*51G>C rs76764510 0.03469
NM_001005498.4(RHBDF2):c.*580C>T rs111924263 0.02655
NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr) rs34814954 0.02225
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) rs73998915 0.02086
NM_001005498.4(RHBDF2):c.1638+12T>C rs114994065 0.01225
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) rs77626078 0.01225
NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe) rs116968311 0.00437
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) rs114238341 0.00418
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178 0.00355
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_001005498.4(RHBDF2):c.*711A>G rs137910466 0.00300
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) rs115094923 0.00277
NM_001005498.4(RHBDF2):c.1809+7C>T rs200007588 0.00257
NM_001005498.4(RHBDF2):c.995C>T (p.Ala332Val) rs144193184 0.00229
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) rs145102618 0.00202
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) rs151290253 0.00173
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) rs33995520 0.00154
NM_001005498.4(RHBDF2):c.392G>A (p.Arg131His) rs140560049 0.00145
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) rs140265206 0.00082
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) rs3744044 0.00082
NM_001005498.4(RHBDF2):c.272+10C>T rs374497069 0.00074
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) rs140433374 0.00052
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) rs150984603 0.00045
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln) rs145136848 0.00037
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) rs146553433 0.00033
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) rs138968491 0.00024
NM_001005498.4(RHBDF2):c.2194A>T (p.Ile732Phe) rs188076576 0.00023
NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg) rs144817869 0.00021
NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln) rs146134173 0.00019
NM_001005498.4(RHBDF2):c.1638+7G>A rs201989863 0.00019
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) rs140196536 0.00018
NM_001005498.4(RHBDF2):c.31G>A (p.Val11Met) rs142019309 0.00018
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) rs142642633 0.00016
NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His) rs143449348 0.00013
NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg) rs138667763 0.00013
NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln) rs200821841 0.00011
NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys) rs369829771 0.00011
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) rs187556554 0.00011
NM_001005498.4(RHBDF2):c.680C>T (p.Ser227Leu) rs143672318 0.00011
NM_001005498.4(RHBDF2):c.921-15C>T rs375068386 0.00011
NM_001005498.4(RHBDF2):c.1165C>T (p.Leu389=) rs367692947 0.00009
NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=) rs144977361 0.00008
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) rs770206566 0.00006
NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=) rs529460959 0.00005
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) rs367658130 0.00005
NM_001005498.4(RHBDF2):c.1194C>T (p.Pro398=) rs756982462 0.00004
NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu) rs756654862 0.00004
NM_001005498.4(RHBDF2):c.327G>T (p.Gln109His) rs763124357 0.00004
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His) rs546484250 0.00004
NM_001005498.4(RHBDF2):c.1301C>T (p.Ser434Leu) rs369966353 0.00003
NM_001005498.4(RHBDF2):c.1509C>T (p.Pro503=) rs758642827 0.00003
NM_001005498.4(RHBDF2):c.1962C>T (p.Asp654=) rs755084226 0.00003
NM_001005498.4(RHBDF2):c.2247C>T (p.Leu749=) rs148859527 0.00003
NM_001005498.4(RHBDF2):c.367G>A (p.Gly123Ser) rs777471290 0.00003
NM_001005498.4(RHBDF2):c.391C>T (p.Arg131Cys) rs751482282 0.00003
NM_001005498.4(RHBDF2):c.1143C>T (p.Phe381=) rs530094611 0.00002
NM_001005498.4(RHBDF2):c.155A>G (p.Lys52Arg) rs765724768 0.00001
NM_001005498.4(RHBDF2):c.1574+7C>T rs568757638 0.00001
NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe) rs774772768 0.00001
NM_001005498.4(RHBDF2):c.616C>T (p.Arg206Cys) rs1038678558 0.00001
NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His) rs149960669 0.00001
NM_001005498.4(RHBDF2):c.*551G>A rs2289801
NM_001005498.4(RHBDF2):c.*551G>C rs2289801
NM_001005498.4(RHBDF2):c.100C>T (p.Pro34Ser)
NM_001005498.4(RHBDF2):c.1011G>T (p.Lys337Asn)
NM_001005498.4(RHBDF2):c.1030G>A (p.Val344Met)
NM_001005498.4(RHBDF2):c.1063C>T (p.Arg355Cys)
NM_001005498.4(RHBDF2):c.1114C>T (p.Arg372Trp)
NM_001005498.4(RHBDF2):c.1115+10C>G
NM_001005498.4(RHBDF2):c.1115+20C>T
NM_001005498.4(RHBDF2):c.1115_1115+130dup
NM_001005498.4(RHBDF2):c.1116-12G>A
NM_001005498.4(RHBDF2):c.1116-18C>T
NM_001005498.4(RHBDF2):c.1116-4A>G
NM_001005498.4(RHBDF2):c.1116-8_1116-7del
NM_001005498.4(RHBDF2):c.1144G>A (p.Val382Ile)
NM_001005498.4(RHBDF2):c.1191A>G (p.Ala397=)
NM_001005498.4(RHBDF2):c.1192C>T (p.Pro398Ser)
NM_001005498.4(RHBDF2):c.1195G>A (p.Val399Met)
NM_001005498.4(RHBDF2):c.1212C>T (p.His404=)
NM_001005498.4(RHBDF2):c.1227+20A>G
NM_001005498.4(RHBDF2):c.1228-8C>T
NM_001005498.4(RHBDF2):c.1232T>C (p.Leu411Pro)
NM_001005498.4(RHBDF2):c.1251C>T (p.Tyr417=)
NM_001005498.4(RHBDF2):c.1254G>A (p.Glu418=)
NM_001005498.4(RHBDF2):c.125dup (p.Glu43fs)
NM_001005498.4(RHBDF2):c.1302+3G>A
NM_001005498.4(RHBDF2):c.1303-20C>G
NM_001005498.4(RHBDF2):c.1334C>T (p.Ser445Leu)
NM_001005498.4(RHBDF2):c.1345C>T (p.Arg449Trp)
NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln)
NM_001005498.4(RHBDF2):c.1371G>A (p.Leu457=)
NM_001005498.4(RHBDF2):c.1373T>C (p.Val458Ala)
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) rs34005184
NM_001005498.4(RHBDF2):c.1397G>A (p.Arg466Gln)
NM_001005498.4(RHBDF2):c.139A>G (p.Met47Val)
NM_001005498.4(RHBDF2):c.1451G>A (p.Arg484Gln)
NM_001005498.4(RHBDF2):c.1465-12_1465-10del
NM_001005498.4(RHBDF2):c.1465-16_1465-15delinsGC
NM_001005498.4(RHBDF2):c.1485C>T (p.Val495=)
NM_001005498.4(RHBDF2):c.1508C>T (p.Pro503Leu)
NM_001005498.4(RHBDF2):c.151-16C>T
NM_001005498.4(RHBDF2):c.151-187CA[12] rs138608987
NM_001005498.4(RHBDF2):c.151-187CA[16] rs138608987
NM_001005498.4(RHBDF2):c.151-187CA[18] rs138608987
NM_001005498.4(RHBDF2):c.151-187CA[19] rs138608987
NM_001005498.4(RHBDF2):c.151-187CA[20] rs138608987
NM_001005498.4(RHBDF2):c.151-50G>A
NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu)
NM_001005498.4(RHBDF2):c.1548G>A (p.Ser516=)
NM_001005498.4(RHBDF2):c.1554T>C (p.Ala518=)
NM_001005498.4(RHBDF2):c.1575-16T>A rs201325813
NM_001005498.4(RHBDF2):c.1575-20A>C
NM_001005498.4(RHBDF2):c.1617C>T (p.Pro539=)
NM_001005498.4(RHBDF2):c.1638+6T>C
NM_001005498.4(RHBDF2):c.1639-11C>G rs141461044
NM_001005498.4(RHBDF2):c.1639-11C>T
NM_001005498.4(RHBDF2):c.1639-15G>T
NM_001005498.4(RHBDF2):c.1639-18G>A
NM_001005498.4(RHBDF2):c.1700A>G (p.Lys567Arg)
NM_001005498.4(RHBDF2):c.1730G>A (p.Gly577Asp)
NM_001005498.4(RHBDF2):c.1734-6C>A
NM_001005498.4(RHBDF2):c.1734-6C>G
NM_001005498.4(RHBDF2):c.1744A>G (p.Thr582Ala)
NM_001005498.4(RHBDF2):c.178G>T (p.Val60Phe)
NM_001005498.4(RHBDF2):c.1803C>T (p.Cys601=)
NM_001005498.4(RHBDF2):c.1804T>A (p.Ser602Thr)
NM_001005498.4(RHBDF2):c.1810-20C>T
NM_001005498.4(RHBDF2):c.1851C>T (p.Leu617=)
NM_001005498.4(RHBDF2):c.1910+6A>T
NM_001005498.4(RHBDF2):c.1911-17G>A
NM_001005498.4(RHBDF2):c.1911-7C>T
NM_001005498.4(RHBDF2):c.196C>T (p.Arg66Cys)
NM_001005498.4(RHBDF2):c.1987C>T (p.Arg663Cys)
NM_001005498.4(RHBDF2):c.1996A>G (p.Ile666Val)
NM_001005498.4(RHBDF2):c.202C>G (p.Arg68Gly)
NM_001005498.4(RHBDF2):c.2034C>T (p.Ala678=) rs1228804799
NM_001005498.4(RHBDF2):c.2065-17C>T
NM_001005498.4(RHBDF2):c.2065-4C>A
NM_001005498.4(RHBDF2):c.2065-7G>A
NM_001005498.4(RHBDF2):c.2076C>T (p.Ala692=)
NM_001005498.4(RHBDF2):c.2109C>T (p.Phe703=)
NM_001005498.4(RHBDF2):c.2133G>A (p.Pro711=)
NM_001005498.4(RHBDF2):c.2174C>T (p.Ala725Val)
NM_001005498.4(RHBDF2):c.2178C>T (p.Ile726=)
NM_001005498.4(RHBDF2):c.2190G>A (p.Leu730=)
NM_001005498.4(RHBDF2):c.2202C>T (p.Gly734=)
NM_001005498.4(RHBDF2):c.2217C>T (p.Ile739=)
NM_001005498.4(RHBDF2):c.2232C>T (p.His744=)
NM_001005498.4(RHBDF2):c.2244C>T (p.Phe748=)
NM_001005498.4(RHBDF2):c.2245C>G (p.Leu749Val)
NM_001005498.4(RHBDF2):c.2293G>A (p.Gly765Ser)
NM_001005498.4(RHBDF2):c.2312G>A (p.Arg771His)
NM_001005498.4(RHBDF2):c.2346C>T (p.Ala782=)
NM_001005498.4(RHBDF2):c.2352C>T (p.Ala784=)
NM_001005498.4(RHBDF2):c.2371G>A (p.Val791Met)
NM_001005498.4(RHBDF2):c.2386A>G (p.Ile796Val)
NM_001005498.4(RHBDF2):c.2389T>C (p.Tyr797His)
NM_001005498.4(RHBDF2):c.2400_2410del (p.Trp801fs)
NM_001005498.4(RHBDF2):c.2444G>A (p.Arg815His)
NM_001005498.4(RHBDF2):c.2452G>A (p.Glu818Lys)
NM_001005498.4(RHBDF2):c.2475G>A (p.Val825=)
NM_001005498.4(RHBDF2):c.265A>C (p.Ile89Leu)
NM_001005498.4(RHBDF2):c.272+18C>T
NM_001005498.4(RHBDF2):c.29G>A (p.Ser10Asn)
NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp) rs372953205
NM_001005498.4(RHBDF2):c.337C>T (p.Arg113Cys)
NM_001005498.4(RHBDF2):c.342C>G (p.Ser114Arg)
NM_001005498.4(RHBDF2):c.34T>A (p.Ser12Thr)
NM_001005498.4(RHBDF2):c.366C>T (p.Tyr122=)
NM_001005498.4(RHBDF2):c.380C>T (p.Ala127Val)
NM_001005498.4(RHBDF2):c.386G>C (p.Cys129Ser)
NM_001005498.4(RHBDF2):c.406C>A (p.Pro136Thr)
NM_001005498.4(RHBDF2):c.422C>T (p.Pro141Leu)
NM_001005498.4(RHBDF2):c.428del (p.Phe143fs)
NM_001005498.4(RHBDF2):c.437C>T (p.Thr146Ile)
NM_001005498.4(RHBDF2):c.469-12C>A
NM_001005498.4(RHBDF2):c.469-17G>A
NM_001005498.4(RHBDF2):c.470T>C (p.Ile157Thr) rs387907129
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130
NM_001005498.4(RHBDF2):c.480G>A (p.Pro160=)
NM_001005498.4(RHBDF2):c.484G>C (p.Ala162Pro)
NM_001005498.4(RHBDF2):c.494G>A (p.Arg165Gln)
NM_001005498.4(RHBDF2):c.495G>A (p.Arg165=)
NM_001005498.4(RHBDF2):c.531C>T (p.His177=)
NM_001005498.4(RHBDF2):c.538C>T (p.His180Tyr)
NM_001005498.4(RHBDF2):c.558A>G (p.Gly186=)
NM_001005498.4(RHBDF2):c.561C>A (p.Val187=)
NM_001005498.4(RHBDF2):c.584G>A (p.Ser195Asn)
NM_001005498.4(RHBDF2):c.589C>G (p.Arg197Gly)
NM_001005498.4(RHBDF2):c.590G>A (p.Arg197His)
NM_001005498.4(RHBDF2):c.617G>A (p.Arg206His) rs145040227
NM_001005498.4(RHBDF2):c.617G>C (p.Arg206Pro) rs145040227
NM_001005498.4(RHBDF2):c.672+20A>G
NM_001005498.4(RHBDF2):c.673-9C>T
NM_001005498.4(RHBDF2):c.703C>T (p.Arg235Trp)
NM_001005498.4(RHBDF2):c.705G>A (p.Arg235=)
NM_001005498.4(RHBDF2):c.709C>T (p.Arg237Trp)
NM_001005498.4(RHBDF2):c.737C>T (p.Pro246Leu)
NM_001005498.4(RHBDF2):c.754G>A (p.Asp252Asn)
NM_001005498.4(RHBDF2):c.756T>C (p.Asp252=)
NM_001005498.4(RHBDF2):c.763G>A (p.Asp255Asn)
NM_001005498.4(RHBDF2):c.795T>C (p.Phe265=)
NM_001005498.4(RHBDF2):c.796del (p.Ser266fs)
NM_001005498.4(RHBDF2):c.802-8C>G
NM_001005498.4(RHBDF2):c.820C>A (p.Pro274Thr)
NM_001005498.4(RHBDF2):c.845C>A (p.Pro282Gln)
NM_001005498.4(RHBDF2):c.885C>T (p.Ala295=)
NM_001005498.4(RHBDF2):c.900C>T (p.Pro300=)
NM_001005498.4(RHBDF2):c.919C>G (p.Leu307Val)
NM_001005498.4(RHBDF2):c.928T>C (p.Tyr310His) rs2144114249
NM_001005498.4(RHBDF2):c.935G>A (p.Arg312Gln)
NM_001005498.4(RHBDF2):c.948C>T (p.Pro316=)
NM_001005498.4(RHBDF2):c.950G>C (p.Gly317Ala)
NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) rs149436907
NM_001005498.4(RHBDF2):c.95C>T (p.Pro32Leu)
NM_001005498.4(RHBDF2):c.960C>T (p.Arg320=)
NM_001005498.4(RHBDF2):c.967C>T (p.Arg323Cys)
NM_001005498.4(RHBDF2):c.96G>A (p.Pro32=)
NM_001005498.4(RHBDF2):c.993T>G (p.Phe331Leu)

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