ClinVar Miner

List of variants in gene MYO1E studied for focal segmental glomerulosclerosis 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_004998.4(MYO1E):c.332+8G>A rs4508371 0.98102
NM_004998.4(MYO1E):c.1008C>T (p.Ser336=) rs2230155 0.37486
NM_004998.4(MYO1E):c.2673A>G (p.Ala891=) rs2306791 0.26773
NM_004998.4(MYO1E):c.511-19A>T rs2306782 0.01269
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00883
NM_004998.4(MYO1E):c.1617-12C>G rs192317472 0.00636
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=) rs145459485 0.00334
NM_004998.4(MYO1E):c.978G>A (p.Arg326=) rs141570155 0.00199
NM_004998.4(MYO1E):c.147+14G>T rs183374173 0.00123
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00119
NM_004998.4(MYO1E):c.1616+17A>G rs138790400 0.00117
NM_004998.4(MYO1E):c.2627+8C>T rs12232341 0.00074
NM_004998.4(MYO1E):c.511-17C>T rs118012522 0.00071
NM_004998.4(MYO1E):c.910+4C>T rs200066836 0.00058
NM_004998.4(MYO1E):c.2459G>A (p.Arg820Gln) rs188248622 0.00052
NM_004998.4(MYO1E):c.669G>A (p.Gln223=) rs142105673 0.00046
NM_004998.4(MYO1E):c.2383G>A (p.Gly795Arg) rs180951130 0.00044
NM_004998.4(MYO1E):c.1530+14C>T rs116371817 0.00043
NM_004998.4(MYO1E):c.2878+19G>A rs200710336 0.00043
NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp) rs150397493 0.00040
NM_004998.4(MYO1E):c.2678G>A (p.Gly893Asp) rs202237883 0.00036
NM_004998.4(MYO1E):c.2335-13C>T rs775751894 0.00034
NM_004998.4(MYO1E):c.1292A>C (p.Glu431Ala) rs190122242 0.00033
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=) rs146652440 0.00032
NM_004998.4(MYO1E):c.2672C>T (p.Ala891Val) rs569391805 0.00032
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala) rs369774689 0.00023
NM_004998.4(MYO1E):c.1805+7G>A rs561678142 0.00021
NM_004998.4(MYO1E):c.2164+12A>G rs187897054 0.00020
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=) rs144794852 0.00020
NM_004998.4(MYO1E):c.1624A>G (p.Ile542Val) rs554915757 0.00018
NM_004998.4(MYO1E):c.2628-8T>C rs373053697 0.00018
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr) rs142638347 0.00017
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=) rs200987052 0.00015
NM_004998.4(MYO1E):c.1640C>T (p.Pro547Leu) rs150735139 0.00013
NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His) rs370199714 0.00013
NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn) rs368888160 0.00013
NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys) rs774652175 0.00012
NM_004998.4(MYO1E):c.1513C>A (p.His505Asn) rs139820649 0.00010
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala) rs762762940 0.00010
NM_004998.4(MYO1E):c.3073G>A (p.Ala1025Thr) rs143016163 0.00009
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=) rs370612369 0.00007
NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln) rs757483863 0.00006
NM_004998.4(MYO1E):c.1257G>C (p.Leu419=) rs369851959 0.00005
NM_004998.4(MYO1E):c.1739C>T (p.Thr580Met) rs757163988 0.00005
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=) rs149553440 0.00005
NM_004998.4(MYO1E):c.1874A>G (p.Tyr625Cys) rs1433972657 0.00005
NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu) rs376718983 0.00005
NM_004998.4(MYO1E):c.2597A>G (p.Gln866Arg) rs373150348 0.00005
NM_004998.4(MYO1E):c.2984C>T (p.Pro995Leu) rs138030093 0.00005
NM_004998.4(MYO1E):c.1275+12C>G rs373603961 0.00004
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=) rs140388346 0.00004
NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp) rs763194287 0.00004
NM_004998.4(MYO1E):c.839C>T (p.Ala280Val) rs375751619 0.00004
NM_004998.4(MYO1E):c.1080C>T (p.His360=) rs372487333 0.00003
NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile) rs376817753 0.00003
NM_004998.4(MYO1E):c.241C>A (p.Gln81Lys) rs889123030 0.00003
NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp) rs149359240 0.00003
NM_004998.4(MYO1E):c.3250+4A>G rs748002235 0.00003
NM_004998.4(MYO1E):c.420+4A>G rs368598676 0.00003
NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser) rs542281660 0.00003
NM_004998.4(MYO1E):c.938G>A (p.Gly313Glu) rs745904531 0.00003
NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp) rs1020273476 0.00002
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp) rs375940461 0.00002
NM_004998.4(MYO1E):c.2334+5G>A rs374917616 0.00002
NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr) rs775958627 0.00002
NM_004998.4(MYO1E):c.775C>G (p.Leu259Val) rs371962717 0.00002
NM_004998.4(MYO1E):c.1032C>T (p.Asn344=) rs748090595 0.00001
NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln) rs780232009 0.00001
NM_004998.4(MYO1E):c.1213A>G (p.Ile405Val) rs763406965 0.00001
NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val) rs371914169 0.00001
NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr) rs746688811 0.00001
NM_004998.4(MYO1E):c.1709A>G (p.Asn570Ser) rs781544197 0.00001
NM_004998.4(MYO1E):c.189G>A (p.Lys63=) rs369511429 0.00001
NM_004998.4(MYO1E):c.1945G>A (p.Gly649Arg) rs1196068660 0.00001
NM_004998.4(MYO1E):c.2050-3C>T rs776916643 0.00001
NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys) rs765316403 0.00001
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=) rs774695459 0.00001
NM_004998.4(MYO1E):c.2345G>A (p.Arg782Gln) rs769800490 0.00001
NM_004998.4(MYO1E):c.2481-12A>G rs370209627 0.00001
NM_004998.4(MYO1E):c.2625T>C (p.Asn875=) rs1429635931 0.00001
NM_004998.4(MYO1E):c.2828G>A (p.Ser943Asn) rs781033525 0.00001
NM_004998.4(MYO1E):c.433A>G (p.Ile145Val) rs749937776 0.00001
NM_004998.4(MYO1E):c.484G>A (p.Val162Ile) rs770956809 0.00001
NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys) rs753956205 0.00001
NM_004998.4(MYO1E):c.818C>T (p.Thr273Met) rs766788690 0.00001
NM_004998.4(MYO1E):c.1013C>T (p.Ser338Phe)
NM_004998.4(MYO1E):c.1036G>C (p.Glu346Gln)
NM_004998.4(MYO1E):c.1042G>T (p.Ala348Ser)
NM_004998.4(MYO1E):c.106G>A (p.Val36Met)
NM_004998.4(MYO1E):c.1107T>C (p.Asp369=)
NM_004998.4(MYO1E):c.1109C>G (p.Ser370Cys)
NM_004998.4(MYO1E):c.1126G>A (p.Glu376Lys)
NM_004998.4(MYO1E):c.1148A>G (p.Asn383Ser)
NM_004998.4(MYO1E):c.122A>C (p.Lys41Thr)
NM_004998.4(MYO1E):c.1255C>T (p.Leu419=)
NM_004998.4(MYO1E):c.126A>G (p.Arg42=)
NM_004998.4(MYO1E):c.1297A>G (p.Ile433Val)
NM_004998.4(MYO1E):c.1302A>G (p.Arg434=)
NM_004998.4(MYO1E):c.1313T>C (p.Ile438Thr)
NM_004998.4(MYO1E):c.1402G>A (p.Ala468Thr)
NM_004998.4(MYO1E):c.1416G>A (p.Ala472=) rs564899884
NM_004998.4(MYO1E):c.141C>G (p.Tyr47Ter) rs2542174867
NM_004998.4(MYO1E):c.1423G>T (p.Glu475Ter)
NM_004998.4(MYO1E):c.1439C>T (p.Thr480Met)
NM_004998.4(MYO1E):c.1462C>T (p.Gln488Ter)
NM_004998.4(MYO1E):c.1500A>C (p.Gln500His)
NM_004998.4(MYO1E):c.1506del (p.Phe502fs)
NM_004998.4(MYO1E):c.1547A>G (p.Asp516Gly)
NM_004998.4(MYO1E):c.1611C>T (p.Ser537=)
NM_004998.4(MYO1E):c.1616+20G>C
NM_004998.4(MYO1E):c.1616+4A>T
NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr) rs372880204
NM_004998.4(MYO1E):c.1618C>G (p.Pro540Ala) rs372880204
NM_004998.4(MYO1E):c.1631_1634del (p.Ser544fs)
NM_004998.4(MYO1E):c.1654_1658delinsTCTGT (p.Ala552_Asp553delinsSerVal)
NM_004998.4(MYO1E):c.1663A>T (p.Lys555Ter)
NM_004998.4(MYO1E):c.1698+6T>C
NM_004998.4(MYO1E):c.1734A>T (p.Lys578Asn)
NM_004998.4(MYO1E):c.1750A>T (p.Ile584Phe)
NM_004998.4(MYO1E):c.1771G>A (p.Glu591Lys)
NM_004998.4(MYO1E):c.1805+6G>A
NM_004998.4(MYO1E):c.1855_1856delinsGA (p.Arg619Glu)
NM_004998.4(MYO1E):c.1905G>A (p.Arg635=)
NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu) rs2542033203
NM_004998.4(MYO1E):c.1999G>C (p.Asp667His)
NM_004998.4(MYO1E):c.2050-400G>C rs2542027997
NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser) rs1596351849
NM_004998.4(MYO1E):c.2062G>C (p.Glu688Gln) rs2542027352
NM_004998.4(MYO1E):c.2080A>G (p.Lys694Glu)
NM_004998.4(MYO1E):c.2085T>G (p.Tyr695Ter) rs778868018
NM_004998.4(MYO1E):c.2113T>C (p.Ser705Pro)
NM_004998.4(MYO1E):c.2145C>G (p.Tyr715Ter)
NM_004998.4(MYO1E):c.2192A>G (p.Glu731Gly) rs2079609650
NM_004998.4(MYO1E):c.2193G>C (p.Glu731Asp)
NM_004998.4(MYO1E):c.2220C>A (p.Asn740Lys)
NM_004998.4(MYO1E):c.2243T>C (p.Met748Thr)
NM_004998.4(MYO1E):c.2248G>A (p.Glu750Lys)
NM_004998.4(MYO1E):c.2272G>A (p.Val758Met)
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC rs2140317179
NM_004998.4(MYO1E):c.2335-465C>G rs2140316512
NM_004998.4(MYO1E):c.2350C>A (p.Leu784Met) rs376462389
NM_004998.4(MYO1E):c.2394A>T (p.Lys798Asn)
NM_004998.4(MYO1E):c.2411A>G (p.Asp804Gly)
NM_004998.4(MYO1E):c.2416G>C (p.Gly806Arg)
NM_004998.4(MYO1E):c.2449G>A (p.Glu817Lys)
NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala) rs757642502
NM_004998.4(MYO1E):c.2458C>T (p.Arg820Trp)
NM_004998.4(MYO1E):c.2468C>T (p.Ser823Phe)
NM_004998.4(MYO1E):c.2474C>G (p.Ser825Cys)
NM_004998.4(MYO1E):c.24G>C (p.Gln8His)
NM_004998.4(MYO1E):c.2512G>C (p.Glu838Gln)
NM_004998.4(MYO1E):c.2545T>C (p.Phe849Leu)
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg) rs147596471
NM_004998.4(MYO1E):c.2627C>T (p.Thr876Met)
NM_004998.4(MYO1E):c.2644A>G (p.Lys882Glu)
NM_004998.4(MYO1E):c.2692C>T (p.Gln898Ter)
NM_004998.4(MYO1E):c.2694G>C (p.Gln898His)
NM_004998.4(MYO1E):c.2696T>G (p.Phe899Cys)
NM_004998.4(MYO1E):c.2705G>C (p.Gly902Ala)
NM_004998.4(MYO1E):c.2710G>A (p.Gly904Arg)
NM_004998.4(MYO1E):c.2761G>A (p.Gly921Arg)
NM_004998.4(MYO1E):c.2786G>A (p.Arg929His) rs2079520193
NM_004998.4(MYO1E):c.2804C>G (p.Thr935Ser)
NM_004998.4(MYO1E):c.2819G>T (p.Gly940Val)
NM_004998.4(MYO1E):c.281A>G (p.Asn94Ser)
NM_004998.4(MYO1E):c.2822A>G (p.Tyr941Cys)
NM_004998.4(MYO1E):c.2833A>T (p.Thr945Ser)
NM_004998.4(MYO1E):c.2878+18C>T rs759274124
NM_004998.4(MYO1E):c.2879del
NM_004998.4(MYO1E):c.2885A>G (p.His962Arg)
NM_004998.4(MYO1E):c.2908C>T (p.Gln970Ter) rs2079495070
NM_004998.4(MYO1E):c.2942A>G (p.Gln981Arg)
NM_004998.4(MYO1E):c.2969C>A (p.Thr990Asn)
NM_004998.4(MYO1E):c.296T>A (p.Met99Lys)
NM_004998.4(MYO1E):c.2995C>T (p.Arg999Trp) rs201083485
NM_004998.4(MYO1E):c.299T>A (p.Ile100Asn)
NM_004998.4(MYO1E):c.3032C>T (p.Thr1011Met)
NM_004998.4(MYO1E):c.3034C>A (p.Pro1012Thr) rs746556749
NM_004998.4(MYO1E):c.3035C>T (p.Pro1012Leu) rs775183403
NM_004998.4(MYO1E):c.310_313del (p.Glu104fs)
NM_004998.4(MYO1E):c.322G>A (p.Val108Ile)
NM_004998.4(MYO1E):c.3251-6C>G
NM_004998.4(MYO1E):c.3264G>T (p.Trp1088Cys)
NM_004998.4(MYO1E):c.3281G>A (p.Arg1094Gln)
NM_004998.4(MYO1E):c.475G>C (p.Ala159Pro) rs387906807
NM_004998.4(MYO1E):c.539C>T (p.Pro180Leu)
NM_004998.4(MYO1E):c.59G>A (p.Gly20Asp)
NM_004998.4(MYO1E):c.617A>G (p.Glu206Gly)
NM_004998.4(MYO1E):c.661G>A (p.Ala221Thr)
NM_004998.4(MYO1E):c.673C>G (p.His225Asp)
NM_004998.4(MYO1E):c.716G>C (p.Ser239Thr)
NM_004998.4(MYO1E):c.749A>G (p.Asp250Gly)
NM_004998.4(MYO1E):c.773C>G (p.Thr258Ser)
NM_004998.4(MYO1E):c.776T>G (p.Leu259Arg)
NM_004998.4(MYO1E):c.787A>G (p.Asn263Asp)
NM_004998.4(MYO1E):c.808G>T (p.Glu270Ter)
NM_004998.4(MYO1E):c.83C>T (p.Ser28Phe)
NM_004998.4(MYO1E):c.840G>A (p.Ala280=)
NM_004998.4(MYO1E):c.852C>A (p.His284Gln)
NM_004998.4(MYO1E):c.890C>T (p.Ala297Val)
NM_004998.4(MYO1E):c.892G>T (p.Ala298Ser)
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter) rs1427276872

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