ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 2 by Centre of Medical Genetics, University of Antwerp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809

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