ClinVar Miner

List of variants studied for Diencephalic-mesencephalic junction dysplasia syndrome 1

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_016580.4(PCDH12):c.3252A>G (p.Pro1084=) rs105633 0.98386
NM_016580.4(PCDH12):c.192T>C (p.Ala64=) rs164077 0.72217
NM_016580.4(PCDH12):c.2176T>C (p.Leu726=) rs164073 0.67076
NM_016580.4(PCDH12):c.1153C>A (p.His385Asn) rs164075 0.64019
NM_016580.4(PCDH12):c.2133C>T (p.Ala711=) rs164074 0.49888
NM_016580.4(PCDH12):c.291G>A (p.Leu97=) rs164076 0.47857
NM_016580.4(PCDH12):c.2496G>A (p.Gln832=) rs2434322 0.09424
NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg) rs138473035 0.00025
NM_016580.4(PCDH12):c.1408C>T (p.Arg470Trp) rs139579018 0.00014
NM_016580.4(PCDH12):c.1758C>T (p.Gly586=) rs751172816 0.00004
NM_016580.4(PCDH12):c.2734C>T (p.Arg912Trp) rs574087581 0.00004
NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr) rs762172327 0.00002
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00002
NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter) rs375346212 0.00001
NM_016580.4(PCDH12):c.2563C>T (p.Gln855Ter) rs1048025807 0.00001
NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys) rs778087717 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_016580.4(PCDH12):c.1082C>G (p.Ser361Ter)
NM_016580.4(PCDH12):c.115G>T (p.Glu39Ter) rs1753211537
NM_016580.4(PCDH12):c.1951C>G (p.Pro651Ala) rs1753174154
NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)
NM_016580.4(PCDH12):c.2051C>A (p.Pro684His) rs10040926
NM_016580.4(PCDH12):c.207dup (p.Gln70fs) rs2126931148
NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)
NM_016580.4(PCDH12):c.2433C>A (p.Cys811Ter) rs2126927387
NM_016580.4(PCDH12):c.2511del (p.Ser838fs) rs1596646372
NM_016580.4(PCDH12):c.2581G>T (p.Glu861Ter)
NM_016580.4(PCDH12):c.2675del (p.Gly892fs)
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)
NM_016580.4(PCDH12):c.311G>A (p.Cys104Tyr)
NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln) rs767329852
NM_016580.4(PCDH12):c.3404C>T (p.Ala1135Val)
NM_016580.4(PCDH12):c.3419C>T (p.Ser1140Leu)
NM_016580.4(PCDH12):c.3528CAG[9] (p.Ser1179_Ser1181dup) rs5871792
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro) rs1389877870
NM_016580.4(PCDH12):c.669dup (p.Lys224fs) rs776111123
PCDH12, ARG151TER

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