ClinVar Miner

List of variants studied for Schuurs-Hoeijmakers syndrome by New York Genome Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00004
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.1992C>T (p.Leu664=) rs780838334 0.00001
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu) rs1857288713 0.00001
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup) rs749515977
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009

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