ClinVar Miner

List of variants in gene MYT1L studied for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001303052.2(MYT1L):c.1104C>A (p.Pro368=) rs1529667 0.97836
NM_001303052.2(MYT1L):c.2858+74A>G rs4381806 0.48985
NM_001303052.2(MYT1L):c.1189G>T (p.Ala397Ser) rs755926766 0.00004
NM_001303052.2(MYT1L):c.2443G>A (p.Asp815Asn) rs773930139 0.00003
NM_001303052.2(MYT1L):c.1184T>C (p.Val395Ala) rs1335226719 0.00001
NM_001303052.2(MYT1L):c.2284-5G>A rs772684698 0.00001
NM_001303052.2(MYT1L):c.569A>G (p.Asn190Ser) rs773308219 0.00001
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) rs1277588922 0.00001
NM_001303052.2(MYT1L):c.672A>C (p.Glu224Asp) rs961550417 0.00001
NM_001303052.2(MYT1L):c.835A>G (p.Asn279Asp) rs1279364314 0.00001
GRCh37/hg19 2p25.3(chr2:1905043-2216475)
GRCh37/hg19 2p25.3(chr2:2198678-2338333)
NC_000002.12:g.1852253_1943384dup
NC_000002.12:g.2281453_2420148del
NM_001303052.2(MYT1L):c.-1+4A>C
NM_001303052.2(MYT1L):c.-520G>A rs984804797
NM_001303052.2(MYT1L):c.-521+4932G>C rs2149728599
NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp)
NM_001303052.2(MYT1L):c.1035C>G (p.Asn345Lys)
NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr)
NM_001303052.2(MYT1L):c.1276A>G (p.Met426Val)
NM_001303052.2(MYT1L):c.1295C>A (p.Thr432Asn) rs2053686318
NM_001303052.2(MYT1L):c.1423G>A (p.Gly475Arg)
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg) rs2052983721
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
NM_001303052.2(MYT1L):c.1533del (p.Cys511fs) rs2052981382
NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val) rs2149071963
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) rs1057519560
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn) rs2052976421
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu) rs753426087
NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=) rs2052975031
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1618_1618+1delinsC
NM_001303052.2(MYT1L):c.1639del (p.Val547fs)
NM_001303052.2(MYT1L):c.165T>A (p.Cys55Ter)
NM_001303052.2(MYT1L):c.1670G>T (p.Gly557Val)
NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys) rs2052089346
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr) rs1558371790
NM_001303052.2(MYT1L):c.1682T>A (p.Val561Asp) rs2052086981
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser) rs1573501865
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) rs1330054460
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu) rs2051764612
NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val) rs1573483715
NM_001303052.2(MYT1L):c.1807del (p.Arg603fs) rs2149016192
NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu) rs1264319963
NM_001303052.2(MYT1L):c.1862A>G (p.Tyr621Cys) rs765731360
NM_001303052.2(MYT1L):c.1923T>G (p.Tyr641Ter) rs869320676
NM_001303052.2(MYT1L):c.1968T>A (p.Tyr656Ter) rs527880727
NM_001303052.2(MYT1L):c.1996C>T (p.Gln666Ter)
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
NM_001303052.2(MYT1L):c.2030A>G (p.Asp677Gly) rs2148958913
NM_001303052.2(MYT1L):c.2123dup (p.Ser709fs) rs886041944
NM_001303052.2(MYT1L):c.21G>C (p.Glu7Asp)
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter)
NM_001303052.2(MYT1L):c.2293A>G (p.Met765Val)
NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs) rs2048544264
NM_001303052.2(MYT1L):c.2437G>A (p.Glu813Lys) rs2048541733
NM_001303052.2(MYT1L):c.2452G>A (p.Asp818Asn) rs2048539766
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs) rs2148852029
NM_001303052.2(MYT1L):c.2485C>T (p.Arg829Trp) rs758959040
NM_001303052.2(MYT1L):c.2519_2520+3del
NM_001303052.2(MYT1L):c.2530T>C (p.Leu844=)
NM_001303052.2(MYT1L):c.2622G>C (p.Glu874Asp)
NM_001303052.2(MYT1L):c.2642+1G>A rs869320675
NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly) rs2048197122
NM_001303052.2(MYT1L):c.2677C>T (p.Arg893Ter)
NM_001303052.2(MYT1L):c.2712-4G>A rs201247999
NM_001303052.2(MYT1L):c.2726del (p.Gly909fs) rs2148530761
NM_001303052.2(MYT1L):c.2775-37G>A rs7425544
NM_001303052.2(MYT1L):c.2818G>A (p.Ala940Thr) rs1428977723
NM_001303052.2(MYT1L):c.2821C>T (p.Gln941Ter)
NM_001303052.2(MYT1L):c.2838del (p.Glu947fs)
NM_001303052.2(MYT1L):c.2996C>A (p.Ser999Ter) rs764705470
NM_001303052.2(MYT1L):c.3014T>C (p.Met1005Thr)
NM_001303052.2(MYT1L):c.3033A>G (p.Gly1011=) rs6728368
NM_001303052.2(MYT1L):c.3033A>T (p.Gly1011=) rs6728368
NM_001303052.2(MYT1L):c.3196A>C (p.Lys1066Gln)
NM_001303052.2(MYT1L):c.3200A>T (p.Gln1067Leu)
NM_001303052.2(MYT1L):c.351del (p.Asp119fs) rs2056843518
NM_001303052.2(MYT1L):c.3529A>G (p.Ile1177Val) rs2147782605
NM_001303052.2(MYT1L):c.405C>G (p.Ile135Met) rs375288670
NM_001303052.2(MYT1L):c.459A>T (p.Glu153Asp) rs2056825764
NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup) rs148009982
NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys) rs2056816939
NM_001303052.2(MYT1L):c.557dup (p.Asp187fs) rs2149110899
NM_001303052.2(MYT1L):c.560A>T (p.Asp187Val)
NM_001303052.2(MYT1L):c.591C>G (p.Tyr197Ter) rs528530098
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp) rs2053776375
NM_001303052.2(MYT1L):c.760dup (p.Asp254fs) rs1553324416
NM_001303052.2(MYT1L):c.926G>A (p.Gly309Glu)
NM_001303052.2(MYT1L):c.982G>T (p.Glu328Ter)

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