ClinVar Miner

List of variants studied for X-linked intellectual disability-cerebellar hypoplasia syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) rs192628082 0.00006
NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu) rs1030545345 0.00002
NM_002547.3(OPHN1):c.2158+1G>T
NM_002547.3(OPHN1):c.468_471del (p.Lys156fs) rs2147523877

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