ClinVar Miner

List of variants in gene MYO5B, SNHG22 studied for congenital diarrhea

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.*308C>T rs555879 0.53747
NM_001080467.3(MYO5B):c.*965A>T rs72642495 0.20122
NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=) rs2276170 0.12248
NM_001080467.3(MYO5B):c.*1921G>C rs111319402 0.11314
NM_001080467.3(MYO5B):c.*979G>A rs74515646 0.08075
NM_001080467.3(MYO5B):c.*371T>C rs4127441 0.06808
NM_001080467.3(MYO5B):c.*707T>C rs12457962 0.06804
NM_001080467.3(MYO5B):c.*873G>A rs4638687 0.06800
NM_001080467.3(MYO5B):c.*3065T>C rs78201339 0.06384
NM_001080467.3(MYO5B):c.*2747A>C rs11876859 0.02257
NM_001080467.3(MYO5B):c.*3273G>A rs9947739 0.02247
NM_001080467.3(MYO5B):c.5062A>G (p.Met1688Val) rs112417235 0.02197
NM_001080467.3(MYO5B):c.5433A>C (p.Leu1811=) rs78657366 0.02050
NM_001080467.3(MYO5B):c.*164T>G rs3208550 0.01554
NM_001080467.3(MYO5B):c.*1614T>C rs111994054 0.01125
NM_001080467.3(MYO5B):c.*1610G>C rs148887718 0.00836
NM_001080467.3(MYO5B):c.*1142A>C rs146397214 0.00739
NM_001080467.3(MYO5B):c.*1404T>C rs113054799 0.00736
NM_001080467.3(MYO5B):c.*1272A>C rs114133687 0.00732
NM_001080467.3(MYO5B):c.*2645T>G rs140855200 0.00732
NM_001080467.3(MYO5B):c.*108C>A rs112174362 0.00729
NM_001080467.3(MYO5B):c.5048A>G (p.Lys1683Arg) rs9950781 0.00683
NM_001080467.3(MYO5B):c.*3368G>C rs9947614 0.00671
NM_001080467.3(MYO5B):c.*2283T>C rs59318525 0.00667
NM_001080467.3(MYO5B):c.*202T>G rs73436344 0.00465
NM_001080467.3(MYO5B):c.*2538G>A rs183150275 0.00425
NM_001080467.3(MYO5B):c.*3126A>C rs183415958 0.00406
NM_001080467.3(MYO5B):c.5395-6C>T rs140275825 0.00317
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu) rs139632666 0.00202
NM_001080467.3(MYO5B):c.*2293T>G rs57818618 0.00156
NM_001080467.3(MYO5B):c.*958T>C rs143115573 0.00108
NM_001080467.3(MYO5B):c.4702-9C>T rs147405294 0.00108
NM_001080467.3(MYO5B):c.4674C>G (p.His1558Gln) rs186428920 0.00105
NM_001080467.3(MYO5B):c.*2098T>C rs1297286387 0.00075
NM_001080467.3(MYO5B):c.*829C>T rs189598795 0.00053
NM_001080467.3(MYO5B):c.*1728A>T rs138593222 0.00051
NM_001080467.3(MYO5B):c.*400G>A rs144380641 0.00048
NM_001080467.3(MYO5B):c.*2912T>C rs886053855 0.00047
NM_001080467.3(MYO5B):c.*40G>A rs1058550 0.00031
NM_001080467.3(MYO5B):c.*2571A>G rs190516330 0.00027
NM_001080467.3(MYO5B):c.*552T>C rs768657150 0.00024
NM_001080467.3(MYO5B):c.4954T>A (p.Tyr1652Asn) rs201466306 0.00024
NM_001080467.3(MYO5B):c.*302A>G rs746672084 0.00023
NM_001080467.3(MYO5B):c.*666G>A rs117918775 0.00022
NM_001080467.3(MYO5B):c.*3153T>C rs544138887 0.00018
NM_001080467.3(MYO5B):c.*1967C>T rs192996713 0.00016
NM_001080467.3(MYO5B):c.*382C>T rs368154253 0.00016
NM_001080467.3(MYO5B):c.4460-11G>A rs373035489 0.00015
NM_001080467.3(MYO5B):c.*464G>A rs886053868 0.00013
NM_001080467.3(MYO5B):c.5041G>T (p.Val1681Leu) rs200540643 0.00013
NM_001080467.3(MYO5B):c.4445G>A (p.Arg1482Gln) rs201914259 0.00012
NM_001080467.3(MYO5B):c.*1839A>C rs926646406 0.00011
NM_001080467.3(MYO5B):c.*2550G>T rs113741260 0.00011
NM_001080467.3(MYO5B):c.*3124G>A rs188815832 0.00011
NM_001080467.3(MYO5B):c.*1216A>C rs143821954 0.00010
NM_001080467.3(MYO5B):c.5449A>G (p.Met1817Val) rs200172993 0.00010
NM_001080467.3(MYO5B):c.*1718C>T rs1250533232 0.00009
NM_001080467.3(MYO5B):c.*737A>G rs781628891 0.00008
NM_001080467.3(MYO5B):c.*866C>A rs886053867 0.00006
NM_001080467.3(MYO5B):c.5269G>A (p.Ala1757Thr) rs200931302 0.00006
NM_001080467.3(MYO5B):c.*2534C>T rs111868213 0.00005
NM_001080467.3(MYO5B):c.*2537G>A rs113647716 0.00005
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=) rs747139348 0.00005
NM_001080467.3(MYO5B):c.*1638C>T rs886053861 0.00004
NM_001080467.3(MYO5B):c.4513C>T (p.Leu1505Phe) rs751931284 0.00004
NM_001080467.3(MYO5B):c.4834G>A (p.Val1612Met) rs746297387 0.00004
NM_001080467.3(MYO5B):c.*1485G>A rs886053862 0.00003
NM_001080467.3(MYO5B):c.*2215T>C rs886053858 0.00003
NM_001080467.3(MYO5B):c.*334A>G rs886053869 0.00003
NM_001080467.3(MYO5B):c.4703G>A (p.Gly1568Asp) rs199737949 0.00003
NM_001080467.3(MYO5B):c.*1039T>A rs886053866 0.00002
NM_001080467.3(MYO5B):c.*1340G>C rs908667040 0.00002
NM_001080467.3(MYO5B):c.4440C>T (p.Leu1480=) rs777281668 0.00002
NM_001080467.3(MYO5B):c.5197G>A (p.Ala1733Thr) rs373990722 0.00002
NM_001080467.3(MYO5B):c.*205A>C rs886053871 0.00001
NM_001080467.3(MYO5B):c.*2259G>A rs886053857 0.00001
NM_001080467.3(MYO5B):c.*2511G>T rs796631271 0.00001
NM_001080467.3(MYO5B):c.*335T>C rs570544509 0.00001
NM_001080467.3(MYO5B):c.*3428T>C rs1190572023 0.00001
NM_001080467.3(MYO5B):c.*3640A>G rs1331960796 0.00001
NM_001080467.3(MYO5B):c.4611+2T>C rs757745239 0.00001
NM_001080467.3(MYO5B):c.*1014T>C rs2023831021
NM_001080467.3(MYO5B):c.*1227A>G rs2023827479
NM_001080467.3(MYO5B):c.*1328C>G rs2023826094
NM_001080467.3(MYO5B):c.*1451C>T rs2023824626
NM_001080467.3(MYO5B):c.*1526A>C rs2023823741
NM_001080467.3(MYO5B):c.*1610G>T rs148887718
NM_001080467.3(MYO5B):c.*1671G>T rs9959610
NM_001080467.3(MYO5B):c.*1771T>C rs373737044
NM_001080467.3(MYO5B):c.*1853G>C rs369655468
NM_001080467.3(MYO5B):c.*1896C>A rs79745077
NM_001080467.3(MYO5B):c.*1965C>T rs78555149
NM_001080467.3(MYO5B):c.*1975T>C rs75032645
NM_001080467.3(MYO5B):c.*1993C>G rs75305404
NM_001080467.3(MYO5B):c.*2009T>A rs79509391
NM_001080467.3(MYO5B):c.*2088A>G rs75318758
NM_001080467.3(MYO5B):c.*2114C>T rs1040969957
NM_001080467.3(MYO5B):c.*2129A>G rs73959721
NM_001080467.3(MYO5B):c.*2158G>A rs74651470
NM_001080467.3(MYO5B):c.*2171T>C rs886053859
NM_001080467.3(MYO5B):c.*2183C>T rs774764763
NM_001080467.3(MYO5B):c.*2187C>T rs375542187
NM_001080467.3(MYO5B):c.*2204T>C rs1045170751
NM_001080467.3(MYO5B):c.*2211T>C rs72925917
NM_001080467.3(MYO5B):c.*2219G>C rs72925916
NM_001080467.3(MYO5B):c.*2240A>C rs607552
NM_001080467.3(MYO5B):c.*2240A>G rs607552
NM_001080467.3(MYO5B):c.*2248C>T rs114048807
NM_001080467.3(MYO5B):c.*2256C>T rs78050801
NM_001080467.3(MYO5B):c.*2289C>A rs77330305
NM_001080467.3(MYO5B):c.*2316A>T rs74812451
NM_001080467.3(MYO5B):c.*2339T>C rs377539134
NM_001080467.3(MYO5B):c.*2347T>C rs374402517
NM_001080467.3(MYO5B):c.*2397T>C rs141004090
NM_001080467.3(MYO5B):c.*2465G>A rs140222157
NM_001080467.3(MYO5B):c.*2640G>A rs114480066
NM_001080467.3(MYO5B):c.*2646G>A rs796115232
NM_001080467.3(MYO5B):c.*2666A>C rs373899751
NM_001080467.3(MYO5B):c.*2672C>T rs375423515
NM_001080467.3(MYO5B):c.*2693T>C rs373513902
NM_001080467.3(MYO5B):c.*2695A>G rs369742971
NM_001080467.3(MYO5B):c.*2730C>A rs369797807
NM_001080467.3(MYO5B):c.*2825T>A rs373003146
NM_001080467.3(MYO5B):c.*2827A>G rs369480218
NM_001080467.3(MYO5B):c.*2828G>T rs375226833
NM_001080467.3(MYO5B):c.*2838C>A rs72925913
NM_001080467.3(MYO5B):c.*2860T>C rs72925912
NM_001080467.3(MYO5B):c.*2871G>C rs77754378
NM_001080467.3(MYO5B):c.*2896A>T rs372605995
NM_001080467.3(MYO5B):c.*2908C>T rs117972198
NM_001080467.3(MYO5B):c.*2910G>T rs116888891
NM_001080467.3(MYO5B):c.*2916A>C rs147973380
NM_001080467.3(MYO5B):c.*2919C>T rs115116077
NM_001080467.3(MYO5B):c.*2922C>T rs148796775
NM_001080467.3(MYO5B):c.*2923A>G rs144518115
NM_001080467.3(MYO5B):c.*2956G>A rs1167522718
NM_001080467.3(MYO5B):c.*2960T>C rs76811062
NM_001080467.3(MYO5B):c.*2974A>G rs115831173
NM_001080467.3(MYO5B):c.*3000C>T rs112057683
NM_001080467.3(MYO5B):c.*3049G>A rs1366788070
NM_001080467.3(MYO5B):c.*3073T>G rs73959716
NM_001080467.3(MYO5B):c.*309G>A rs886053870
NM_001080467.3(MYO5B):c.*3102C>A rs113215300
NM_001080467.3(MYO5B):c.*3149A>C rs368309880
NM_001080467.3(MYO5B):c.*3157G>C rs375530149
NM_001080467.3(MYO5B):c.*3158G>A rs372278198
NM_001080467.3(MYO5B):c.*3161A>C rs886053854
NM_001080467.3(MYO5B):c.*3188G>A rs75335611
NM_001080467.3(MYO5B):c.*3208T>C rs368561623
NM_001080467.3(MYO5B):c.*3213A>G rs201748833
NM_001080467.3(MYO5B):c.*3220C>T rs200885001
NM_001080467.3(MYO5B):c.*3239A>G rs1598810725
NM_001080467.3(MYO5B):c.*3273G>C rs9947739
NM_001080467.3(MYO5B):c.*3282G>A rs371042751
NM_001080467.3(MYO5B):c.*3292T>C rs368155236
NM_001080467.3(MYO5B):c.*3300A>G rs367570644
NM_001080467.3(MYO5B):c.*3315T>C rs558262946
NM_001080467.3(MYO5B):c.*3317C>T rs886053853
NM_001080467.3(MYO5B):c.*3341T>C rs371306335
NM_001080467.3(MYO5B):c.*3342C>G rs1342001906
NM_001080467.3(MYO5B):c.*3351A>C rs369420591
NM_001080467.3(MYO5B):c.*3357G>A rs1201555709
NM_001080467.3(MYO5B):c.*3364A>G rs777915881
NM_001080467.3(MYO5B):c.*3365T>C rs375545150
NM_001080467.3(MYO5B):c.*3379A>C rs371267343
NM_001080467.3(MYO5B):c.*3381G>C rs377694296
NM_001080467.3(MYO5B):c.*3391A>G rs373429782
NM_001080467.3(MYO5B):c.*3423G>T rs879173424
NM_001080467.3(MYO5B):c.*3544C>T rs1276336111
NM_001080467.3(MYO5B):c.*58C>T rs2023845967
NM_001080467.3(MYO5B):c.*68A>T rs886053872
NM_001080467.3(MYO5B):c.*99A>C rs11874243
NM_001080467.3(MYO5B):c.4366C>T (p.Gln1456Ter) rs2144048741
NM_001080467.3(MYO5B):c.4460-1G>C rs2144041940
NM_001080467.3(MYO5B):c.4484G>T (p.Gly1495Val) rs2024085527
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080467.3(MYO5B):c.4853-15G>C rs886053874
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs) rs1555793199
NM_001080467.3(MYO5B):c.5313+1G>C rs1555793103
NM_001080467.3(MYO5B):c.5313+6G>A rs886053873
NM_001080467.3(MYO5B):c.5411G>C (p.Arg1804Pro) rs201080553

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