ClinVar Miner

List of variants reported as likely benign for Congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.*672T>C rs2078073 0.27437
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27336
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488 0.23280
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_018475.5(TMEM165):c.*482A>T rs6802 0.22414
NM_013339.4(ALG6):c.*1156dup rs397821582 0.21984
NM_006765.4(TUSC3):c.*1943_*1944insTT rs55894244 0.21201
NM_004870.3(MPDU1):c.-73A>G rs2075230 0.20730
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_024105.4(ALG12):c.*450_*451del rs16445 0.07645
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000303.2(PMM2):c.*1516C>G rs74008088 0.03504
NM_001497.4(B4GALT1):c.*1675dup rs113144091 0.03000
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_032409.3(PINK1):c.*490A>C rs16824318 0.02268
NM_015354.3(NUP188):c.19G>A (p.Gly7Arg) rs113241875 0.02256
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_018475.5(TMEM165):c.*494T>C rs28712413 0.01637
NM_002633.3(PGM1):c.*130C>T rs2749098 0.01573
NM_006765.4(TUSC3):c.-87C>T rs113041846 0.01573
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_006765.4(TUSC3):c.-91G>A rs7012310 0.01126
NM_006765.4(TUSC3):c.-88T>G rs78789580 0.00871
NM_006765.4(TUSC3):c.*2138T>C rs2604367 0.00841
NM_006765.4(TUSC3):c.-108G>A rs563436944 0.00836
NM_006765.4(TUSC3):c.*2100C>A rs77246198 0.00634
NM_006765.4(TUSC3):c.*83A>C rs113086911 0.00629
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006765.4(TUSC3):c.*2450A>G rs188010701 0.00593
NM_006765.3(TUSC3):c.-273G>A rs3810773 0.00279
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_006765.4(TUSC3):c.*2304C>G rs533878815 0.00004
NM_001497.4(B4GALT1):c.*1890del rs3841451
NM_002408.4(MGAT2):c.-351G>T rs116136260
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_005216.5(DDOST):c.*375_*376dup rs200971370
NM_006348.5(COG5):c.*544del rs61088959
NM_006416.5(SLC35A1):c.*294dup rs11432150
NM_006765.4(TUSC3):c.*2368dup rs397694181
NM_012257.4(HBP1):c.*809_*812dup rs10699573
NM_013339.4(ALG6):c.*790TATAT[1] rs527457175
NM_020751.3(COG6):c.*315del rs142947196
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.624-3dup rs397756552
NM_024105.4(ALG12):c.-159_-158del rs113787911
NM_024592.5(SRD5A3):c.*311ACCGAAAA[1] rs375142797
NM_024740.2(ALG9):c.*2496_*2500del rs3833761
NM_032409.3(PINK1):c.*573_*576dup rs143763511
NM_032409.3(PINK1):c.*673_*675dup rs3077908
NM_032409.3(PINK1):c.*725GA[4] rs34361349

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