ClinVar Miner

List of variants reported as likely pathogenic by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

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Total variants: 29
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HGVS dbSNP
NM_000088.3(COL1A1):c.3099+2T>A rs1555572315
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr) rs1336343565
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816
NM_001089.3(ABCA3):c.614-2A>G rs773223403
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) rs1569508922
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) rs1567744830
NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) rs1563221666
NM_001365999.1(SZT2):c.5025-2A>G rs1557569831
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001369369.1(FOXN1):c.1247del (p.Pro416fs) rs1567886959
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu)
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004115.3(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005215.4(DCC):c.1667del (p.Gly556fs) rs1568364038
NM_006359.3(SLC9A6):c.1632-19_1632-3del rs1569525894
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) rs1564365418
NM_019026.4(TMCO1):c.646_647del (p.Ala216fs) rs1558027212
NM_022893.4(BCL11A):c.152G>C (p.Cys51Ser) rs1558519731
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_198947.4(FAM111B):c.1462del (p.Cys488fs) rs1565191262

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