ClinVar Miner

List of variants in gene FRMPD4 studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001368397.1(FRMPD4):c.1197+12C>G rs4469660 0.99321
NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=) rs7049642 0.01254
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) rs144170600 0.00015
NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val) rs142025193 0.00011
NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn) rs147167664 0.00004
NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met) rs781278954 0.00004
NM_001368397.1(FRMPD4):c.2003C>A (p.Thr668Asn) rs376545795 0.00003
NM_001368397.1(FRMPD4):c.3593G>A (p.Arg1198Gln) rs376320353 0.00003
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys) rs761416670 0.00001
NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val) rs1294169574 0.00001
NM_001368397.1(FRMPD4):c.2425G>A (p.Ala809Thr) rs1483250337 0.00001
NM_001368397.1(FRMPD4):c.2882G>A (p.Gly961Glu) rs1281878974 0.00001
NM_001368397.1(FRMPD4):c.2917G>C (p.Ala973Pro) rs200249861 0.00001
NM_001368397.1(FRMPD4):c.572C>T (p.Ser191Leu) rs1263695778 0.00001
NC_000023.10:g.12515801_12581900del
NM_001368397.1(FRMPD4):c.1071-1G>A
NM_001368397.1(FRMPD4):c.1151C>A (p.Ser384Ter) rs2147144421
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) rs1602353928
NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs) rs2041898606
NM_001368397.1(FRMPD4):c.1405A>G (p.Arg469Gly)
NM_001368397.1(FRMPD4):c.1411G>T (p.Glu471Ter)
NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg) rs2041962927
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368397.1(FRMPD4):c.1772A>C (p.Glu591Ala)
NM_001368397.1(FRMPD4):c.1851del (p.Cys618fs) rs886038208
NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu) rs769660304
NM_001368397.1(FRMPD4):c.2167A>G (p.Lys723Glu)
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro) rs750615873
NM_001368397.1(FRMPD4):c.2233A>G (p.Thr745Ala)
NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)
NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro) rs2042115084
NM_001368397.1(FRMPD4):c.2932G>A (p.Asp978Asn)
NM_001368397.1(FRMPD4):c.3004A>G (p.Met1002Val)
NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)
NM_001368397.1(FRMPD4):c.3258del (p.Arg1087fs)
NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe) rs1288896792
NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=) rs2042136593
NM_001368397.1(FRMPD4):c.3388G>C (p.Glu1130Gln)
NM_001368397.1(FRMPD4):c.3440G>A (p.Gly1147Glu)
NM_001368397.1(FRMPD4):c.3505G>A (p.Ala1169Thr)
NM_001368397.1(FRMPD4):c.3596T>C (p.Met1199Thr)
NM_001368397.1(FRMPD4):c.3641A>G (p.Gln1214Arg)
NM_001368397.1(FRMPD4):c.3710C>T (p.Ser1237Leu)
NM_001368397.1(FRMPD4):c.3779C>G (p.Pro1260Arg)
NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)
NM_001368397.1(FRMPD4):c.3894T>G (p.Ile1298Met)
NM_001368397.1(FRMPD4):c.422+9C>T rs2059220297
NM_001368397.1(FRMPD4):c.423-2A>C
NM_001368397.1(FRMPD4):c.476A>G (p.Lys159Arg) rs2147106313
NM_001368397.1(FRMPD4):c.561del (p.Asn187fs)
NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile) rs2060020376
NM_001368397.1(FRMPD4):c.630G>A (p.Leu210=)
NM_001368397.1(FRMPD4):c.856C>T (p.Arg286Ter) rs1569057837
NM_001368397.1(FRMPD4):c.857G>A (p.Arg286Gln) rs2060107292

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