ClinVar Miner

List of variants studied for Microcephaly, short stature, and polymicrogyria with or without seizures by Baylor Genetics

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Total variants: 11
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HGVS dbSNP
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys) rs368918234
NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)
NM_173630.4(RTTN):c.4028G>A (p.Ser1343Asn)
NM_173630.4(RTTN):c.4443A>T (p.Leu1481Phe)
NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln)
NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn) rs886042189
NM_173630.4(RTTN):c.487+2T>G
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met) rs781683199
NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr) rs200883952
NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098

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