ClinVar Miner

List of variants in gene MAPK8IP3 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001318852.2(MAPK8IP3):c.3562+45T>C rs2437734 0.92175
NM_001318852.2(MAPK8IP3):c.3409+18A>G rs2076427 0.81404
NM_001318852.2(MAPK8IP3):c.3409+32T>G rs2076428 0.81352
NM_001318852.2(MAPK8IP3):c.3562+44C>T rs2076430 0.80972
NM_001318852.2(MAPK8IP3):c.3893-24G>C rs2072989 0.80568
NM_001318852.2(MAPK8IP3):c.3768G>C (p.Gly1256=) rs2076431 0.80393
NM_001318852.2(MAPK8IP3):c.2447-15C>T rs2575371 0.46886
NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala) rs2294619 0.25953
NM_001318852.2(MAPK8IP3):c.2211T>C (p.Asp737=) rs2294618 0.11204
NM_001318852.2(MAPK8IP3):c.1427G>A (p.Arg476His) rs758533722 0.00005
NM_001318852.2(MAPK8IP3):c.1163C>T (p.Ser388Leu) rs1226478589 0.00003
NM_001318852.2(MAPK8IP3):c.2811G>C (p.Gln937His) rs765040996 0.00001
NM_001318852.2(MAPK8IP3):c.3469C>T (p.Arg1157Trp) rs367758687 0.00001
NM_001318852.2(MAPK8IP3):c.685C>T (p.Pro229Ser) rs1209951363 0.00001
NM_001318852.2(MAPK8IP3):c.833C>T (p.Thr278Ile) rs1365639070 0.00001
NM_001318852.2(MAPK8IP3):c.1012G>A (p.Glu338Lys) rs939755831
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001318852.2(MAPK8IP3):c.1166C>T (p.Thr389Met)
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg) rs1596711175
NM_001318852.2(MAPK8IP3):c.1207G>A (p.Asp403Asn)
NM_001318852.2(MAPK8IP3):c.1219G>T (p.Glu407Ter)
NM_001318852.2(MAPK8IP3):c.1323GAA[1] (p.Lys442del)
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) rs1567198751
NM_001318852.2(MAPK8IP3):c.1363G>T (p.Glu455Ter)
NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly) rs1596766963
NM_001318852.2(MAPK8IP3):c.1386G>C (p.Glu462Asp)
NM_001318852.2(MAPK8IP3):c.1402C>T (p.Gln468Ter)
NM_001318852.2(MAPK8IP3):c.1499A>G (p.Glu500Gly)
NM_001318852.2(MAPK8IP3):c.1552A>G (p.Met518Val)
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln) rs1596780112
NM_001318852.2(MAPK8IP3):c.1665G>A (p.Met555Ile) rs1596780602
NM_001318852.2(MAPK8IP3):c.167T>A (p.Met56Lys)
NM_001318852.2(MAPK8IP3):c.1733G>C (p.Ser578Thr)
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.1762C>T (p.Pro588Ser)
NM_001318852.2(MAPK8IP3):c.1828A>G (p.Ser610Gly) rs2141932352
NM_001318852.2(MAPK8IP3):c.1873C>T (p.Arg625Trp) rs1053152286
NM_001318852.2(MAPK8IP3):c.1899C>A (p.Asp633Glu)
NM_001318852.2(MAPK8IP3):c.2025+2T>G
NM_001318852.2(MAPK8IP3):c.2122-1G>A
NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)
NM_001318852.2(MAPK8IP3):c.2222G>A (p.Cys741Tyr)
NM_001318852.2(MAPK8IP3):c.2250G>T (p.Lys750Asn) rs1005743990
NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)
NM_001318852.2(MAPK8IP3):c.2324G>A (p.Trp775Ter)
NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp) rs1555458045
NM_001318852.2(MAPK8IP3):c.2647G>A (p.Ala883Thr)
NM_001318852.2(MAPK8IP3):c.2744T>C (p.Leu915Ser)
NM_001318852.2(MAPK8IP3):c.2819+1G>A rs1347784703
NM_001318852.2(MAPK8IP3):c.2906C>T (p.Ala969Val)
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln) rs1163583945
NM_001318852.2(MAPK8IP3):c.3034C>T (p.Arg1012Cys)
NM_001318852.2(MAPK8IP3):c.3079C>T (p.Arg1027Cys)
NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val)
NM_001318852.2(MAPK8IP3):c.3239A>G (p.Lys1080Arg)
NM_001318852.2(MAPK8IP3):c.3358C>T (p.His1120Tyr)
NM_001318852.2(MAPK8IP3):c.3394G>A (p.Val1132Ile)
NM_001318852.2(MAPK8IP3):c.3436G>A (p.Val1146Ile)
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001318852.2(MAPK8IP3):c.3440G>A (p.Arg1147His) rs2141957171
NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly) rs372037148
NM_001318852.2(MAPK8IP3):c.3493G>A (p.Gly1165Arg)
NM_001318852.2(MAPK8IP3):c.3523+16A>C rs2076429
NM_001318852.2(MAPK8IP3):c.3598C>T (p.Arg1200Cys)
NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys) rs1596818779
NM_001318852.2(MAPK8IP3):c.3712G>A (p.Asp1238Asn)
NM_001318852.2(MAPK8IP3):c.3726_3729del (p.Phe1242fs)
NM_001318852.2(MAPK8IP3):c.3826G>A (p.Glu1276Lys)
NM_001318852.2(MAPK8IP3):c.3846C>A (p.Asn1282Lys)
NM_001318852.2(MAPK8IP3):c.3865G>A (p.Gly1289Arg) rs2141961348
NM_001318852.2(MAPK8IP3):c.401G>A (p.Arg134His)
NM_001318852.2(MAPK8IP3):c.499C>T (p.Arg167Trp)
NM_001318852.2(MAPK8IP3):c.580G>A (p.Glu194Lys)
NM_001318852.2(MAPK8IP3):c.601_602+13dup
NM_001318852.2(MAPK8IP3):c.632T>C (p.Val211Ala)
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_001318852.2(MAPK8IP3):c.710G>A (p.Ser237Asn)
NM_001318852.2(MAPK8IP3):c.79G>T (p.Glu27Ter) rs1479142047
NM_001318852.2(MAPK8IP3):c.923G>T (p.Arg308Leu)

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