ClinVar Miner

List of variants in gene RET reported as likely benign for Hirschsprung disease, susceptibility to, 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_020975.6(RET):c.626-41G>A rs572623103 0.00098
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414 0.00079
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_020975.6(RET):c.*1348G>A rs149252070 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020975.6(RET):c.2939+13T>C rs149417158 0.00035
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
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_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1668C>G (p.Ser556=) rs141771814 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 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.597C>T (p.Asn199=) rs55810667 0.00012
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301 0.00010
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.1596C>T (p.Gly532=) rs144460361 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.3156C>T (p.Leu1052=) rs191769748 0.00008
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
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.81G>A (p.Leu27=) rs369519655 0.00007
NM_020975.6(RET):c.2742A>G (p.Pro914=) rs375963128 0.00006
NM_020975.6(RET):c.1476C>G (p.Thr492=) rs758249079 0.00005
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.73+17G>T rs763327195 0.00005
NM_020975.6(RET):c.2124C>T (p.Ala708=) rs749646777 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.79T>C (p.Leu27=) rs377160777 0.00004
NM_020975.6(RET):c.1879+18G>A rs368088386 0.00003
NM_020975.6(RET):c.2284+15C>T rs768252806 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.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.723C>T (p.Ala241=) rs544252468 0.00002
NM_020975.6(RET):c.825C>T (p.Gly275=) rs150797149 0.00002
NM_020975.6(RET):c.867+4del rs398124368 0.00002
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.1649-7T>C rs758817204 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.625+11A>G rs778239396 0.00001
NM_020975.6(RET):c.*492G>C rs568766449
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.1311C>T (p.Asn437=) rs1190189942
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1617C>A (p.Gly539=) rs1554818648
NM_020975.6(RET):c.1648+14A>G rs1356301733
NM_020975.6(RET):c.186G>A (p.Glu62=) rs1588862529
NM_020975.6(RET):c.2089C>T (p.Leu697=) rs1588874416
NM_020975.6(RET):c.2262G>A (p.Thr754=) rs779080598
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2393-5C>T rs1554819512
NM_020975.6(RET):c.2433C>T (p.Ser811=) rs1290818295
NM_020975.6(RET):c.2487T>C (p.Ser829=) rs2132946081
NM_020975.6(RET):c.2535C>T (p.Ala845=) rs377767425
NM_020975.6(RET):c.2700T>C (p.Tyr900=) rs1185622721
NM_020975.6(RET):c.2985G>A (p.Arg995=) rs1252674267
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
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>T (p.Pro320=) rs756761746

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