ClinVar Miner

List of variants reported by Department of Medical Genetics, National Institute of Health

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_006580.4(CLDN16):c.217+5G>A rs751959432 0.00002
NM_000023.4(SGCA):c.701del (p.Asp234fs)
NM_000023.4(SGCA):c.956+1G>A
NM_000045.4(ARG1):c.513dup (p.Lys172fs)
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000153.4(GALC):c.911C>T (p.Thr304Ile)
NM_000232.5(SGCB):c.919_921del (p.Cys307del)
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) rs1751703312
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) rs192317605
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
NM_001080510.5(METTL23):c.178dup (p.Glu60fs) rs1382444181
NM_001165963.4(SCN1A):c.965-2A>G
NM_001267550.2(TTN):c.106541del (p.Asp35514fs) rs2154131647
NM_001355436.2(SPTB):c.5059dup (p.Glu1687fs)
NM_003482.4(KMT2D):c.15108_15110del (p.His5036_Glu5037delinsGln)
NM_005677.4:c.(814+1_815-1)_(954+1_955-1)del
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)
NM_013275.6(ANKRD11):c.2127A>C (p.Glu709Asp)
NM_013275.6(ANKRD11):c.3907del (p.Val1303fs)
NM_020184.4(CNNM4):c.1682-1G>C rs879255500
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs)
NM_022455.5(NSD1):c.6030del (p.Gly2013fs)
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_133433.4(NIPBL):c.3937A>C (p.Thr1313Pro)
NM_170707.4(LMNA):c.1549_1550del (p.Gln517fs)

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