ClinVar Miner

List of variants studied for Hirschsprung disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_020975.6(RET):c.626-41G>A rs572623103 0.00098
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_020975.6(RET):c.2939+13T>C rs149417158 0.00035
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000514.4(GDNF):c.222A>G (p.Arg74=) rs139694199 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.1668C>G (p.Ser556=) rs141771814 0.00014
NM_020975.6(RET):c.3006C>T (p.Ser1002=) rs370970483 0.00014
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) rs549907428 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_020975.6(RET):c.1596C>T (p.Gly532=) rs144460361 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.3156C>T (p.Leu1052=) rs191769748 0.00008
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1371A>T (p.Ser457=) rs376464605 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.81G>A (p.Leu27=) rs369519655 0.00007
NM_020975.6(RET):c.82G>A (p.Gly28Ser) rs779905135 0.00007
NM_000514.4(GDNF):c.447C>T (p.Cys149=) rs368244196 0.00006
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser) rs777451569 0.00006
NM_020975.6(RET):c.1103G>A (p.Arg368His) rs199529397 0.00006
NM_020975.6(RET):c.2305C>T (p.Leu769=) rs142793711 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2742A>G (p.Pro914=) rs375963128 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_020975.6(RET):c.736C>A (p.His246Asn) rs780756440 0.00006
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_020975.6(RET):c.1363G>A (p.Val455Ile) rs145966037 0.00005
NM_020975.6(RET):c.1476C>G (p.Thr492=) rs758249079 0.00005
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) rs372191563 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_020975.6(RET):c.73+17G>T rs763327195 0.00005
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2124C>T (p.Ala708=) rs749646777 0.00004
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) rs748799148 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.2790G>A (p.Thr930=) rs746599792 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) rs758800351 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.79T>C (p.Leu27=) rs377160777 0.00004
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) rs545625150 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.178C>T (p.Pro60Ser) rs748402485 0.00003
NM_020975.6(RET):c.1879+18G>A rs368088386 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2284+15C>T rs768252806 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.2542A>G (p.Met848Val) rs794728685 0.00003
NM_020975.6(RET):c.897C>T (p.Phe299=) rs529153319 0.00003
NM_020975.6(RET):c.96G>A (p.Ser32=) rs139821724 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) rs371731991 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.144G>A (p.Thr48=) rs759872307 0.00002
NM_020975.6(RET):c.2358T>C (p.His786=) rs758715544 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) rs1361265737 0.00002
NM_020975.6(RET):c.304G>A (p.Asp102Asn) rs201244749 0.00002
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) rs200021472 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.488G>A (p.Arg163Gln) rs149403911 0.00002
NM_020975.6(RET):c.682G>C (p.Ala228Pro) rs760813493 0.00002
NM_020975.6(RET):c.723C>T (p.Ala241=) rs544252468 0.00002
NM_020975.6(RET):c.731C>T (p.Thr244Ile) rs145970248 0.00002
NM_020975.6(RET):c.825C>T (p.Gly275=) rs150797149 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_020975.6(RET):c.1051G>A (p.Val351Ile) rs777716061 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) rs1394361948 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1263+19C>T rs371417381 0.00001
NM_020975.6(RET):c.138C>T (p.Ala46=) rs1177522214 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1649-7T>C rs758817204 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1811C>T (p.Ala604Val) rs1286776938 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.199C>T (p.Arg67Cys) rs749390385 0.00001
NM_020975.6(RET):c.2005A>G (p.Ile669Val) rs776986585 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_020975.6(RET):c.2078G>A (p.Arg693His) rs1332256523 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) rs1356141763 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) rs147216744 0.00001
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) rs768217520 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) rs1323183090 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.236G>A (p.Arg79Gln) rs1318325737 0.00001
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) rs761130672 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2679C>T (p.Phe893=) rs768188546 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.2996C>T (p.Ala999Val) rs748288493 0.00001
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) rs1438192223 0.00001
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) rs867206631 0.00001
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) rs1305293392 0.00001
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) rs569004816 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) rs370756353 0.00001
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) rs138010639 0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) rs144730090 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.350C>A (p.Pro117His) rs763295929 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_020975.6(RET):c.517T>C (p.Ser173Pro) rs864622361 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.59C>A (p.Pro20Gln) rs1837067697 0.00001
NM_020975.6(RET):c.602G>C (p.Ser201Thr) rs898525501 0.00001
NM_020975.6(RET):c.625+11A>G rs778239396 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020975.6(RET):c.677G>C (p.Arg226Pro) rs937818626 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_020975.6(RET):c.750C>T (p.Arg250=) rs1013952995 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.890G>A (p.Arg297His) rs1480040525 0.00001
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_020975.6(RET):c.1154G>T (p.Gly385Val) rs906695652
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) rs371731991
NM_020975.6(RET):c.1264-10G>A rs1837911590
NM_020975.6(RET):c.1264-5C>A rs9282835
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) rs794727875
NM_020975.6(RET):c.1311C>T (p.Asn437=) rs1190189942
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) rs539995816
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) rs1194200337
NM_020975.6(RET):c.1617C>A (p.Gly539=) rs1554818648
NM_020975.6(RET):c.1648+14A>G rs1356301733
NM_020975.6(RET):c.1648+5G>A rs863224776
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) rs1837994115
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.186G>A (p.Glu62=) rs1588862529
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2089C>T (p.Leu697=) rs1588874416
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) rs3026760
NM_020975.6(RET):c.2262G>A (p.Thr754=) rs779080598
NM_020975.6(RET):c.2393-5C>T rs1554819512
NM_020975.6(RET):c.2433C>T (p.Ser811=) rs1290818295
NM_020975.6(RET):c.2450G>A (p.Arg817His) rs1345166214
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) rs2132945857
NM_020975.6(RET):c.2487T>C (p.Ser829=) rs2132946081
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2535C>T (p.Ala845=) rs377767425
NM_020975.6(RET):c.2607+3G>C rs752538741
NM_020975.6(RET):c.2700T>C (p.Tyr900=) rs1185622721
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) rs1588877711
NM_020975.6(RET):c.2985G>A (p.Arg995=) rs1252674267
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) rs1554820077
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) rs368345402
NM_020975.6(RET):c.31C>T (p.Leu11=) rs587780812
NM_020975.6(RET):c.443C>T (p.Ser148Phe) rs1837660663
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) rs776989694
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.452A>T (p.Asn151Ile) rs150261092
NM_020975.6(RET):c.565C>T (p.Arg189Cys) rs1210452561
NM_020975.6(RET):c.577G>T (p.Val193Leu) rs1008123818
NM_020975.6(RET):c.592C>T (p.Pro198Ser) rs76736111
NM_020975.6(RET):c.650C>A (p.Ala217Asp) rs1060500754
NM_020975.6(RET):c.810C>A (p.Pro270=) rs1160403666
NM_020975.6(RET):c.868-18G>T rs57098408
NM_020975.6(RET):c.921A>G (p.Ser307=) rs748294306
NM_020975.6(RET):c.960C>A (p.Pro320=) rs756761746
NM_020975.6(RET):c.960C>T (p.Pro320=) rs756761746

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