ClinVar Miner

List of variants in gene OPHN1 studied for Inborn genetic diseases

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
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.1839A>G (p.Glu613=) rs146588152 0.00129
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002547.3(OPHN1):c.1506T>A (p.Leu502=) rs142413712 0.00044
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) rs199985543 0.00013
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) rs139546241 0.00012
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00011
NM_002547.3(OPHN1):c.2135G>A (p.Arg712Gln) rs200508660 0.00010
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.1800G>T (p.Thr600=) rs372951407 0.00005
NM_002547.3(OPHN1):c.1512A>C (p.Ile504=) rs745685598 0.00004
NM_002547.3(OPHN1):c.1669A>G (p.Ile557Val) rs764608956 0.00003
NM_002547.3(OPHN1):c.1443C>A (p.Arg481=) rs376845562 0.00001
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly) rs760163301 0.00001
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter) rs2077499942
NM_002547.3(OPHN1):c.1171A>T (p.Arg391Trp)
NM_002547.3(OPHN1):c.1312A>G (p.Ser438Gly)
NM_002547.3(OPHN1):c.1362-2A>G rs1569215808
NM_002547.3(OPHN1):c.1479A>G (p.Pro493=)
NM_002547.3(OPHN1):c.1490G>A (p.Arg497Gln)
NM_002547.3(OPHN1):c.1570A>G (p.Met524Val)
NM_002547.3(OPHN1):c.1788G>T (p.Leu596=)
NM_002547.3(OPHN1):c.1831G>A (p.Glu611Lys)
NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)
NM_002547.3(OPHN1):c.2019G>C (p.Leu673Phe)
NM_002547.3(OPHN1):c.2024C>T (p.Ser675Phe)
NM_002547.3(OPHN1):c.2049G>C (p.Lys683Asn) rs1555930474
NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)
NM_002547.3(OPHN1):c.2134C>T (p.Arg712Trp)
NM_002547.3(OPHN1):c.2144C>T (p.Ala715Val)
NM_002547.3(OPHN1):c.2185C>T (p.Arg729Trp)
NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)
NM_002547.3(OPHN1):c.234T>C (p.Asp78=)
NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)
NM_002547.3(OPHN1):c.448C>A (p.His150Asn)
NM_002547.3(OPHN1):c.529T>A (p.Ser177Thr)
NM_002547.3(OPHN1):c.56G>A (p.Arg19His) rs1555988278
NM_002547.3(OPHN1):c.705A>C (p.Thr235=)
NM_002547.3(OPHN1):c.934-5A>G

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