ClinVar Miner

List of variants in gene PHIP studied for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.2537+40G>A rs1890229 0.44448
NM_017934.7(PHIP):c.2017+48G>A rs11752126 0.41057
NM_017934.7(PHIP):c.1848A>C (p.Gln616His) rs200020269 0.00008
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala) rs748247534 0.00005
NM_017934.7(PHIP):c.214C>T (p.Pro72Ser) rs1773329318 0.00001
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter) rs1582175173 0.00001
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp) rs372699478 0.00001
NM_017934.7(PHIP):c.1137-2A>G
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)
NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)
NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)
NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)
NM_017934.7(PHIP):c.1462G>T (p.Asp488Tyr) rs2127740532
NM_017934.7(PHIP):c.1463A>T (p.Asp488Val) rs2127740526
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter) rs1411448554
NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)
NM_017934.7(PHIP):c.1523dup (p.Met508fs)
NM_017934.7(PHIP):c.1525-8T>C
NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
NM_017934.7(PHIP):c.1546G>A (p.Ala516Thr)
NM_017934.7(PHIP):c.1558dup (p.Cys520fs) rs1582206547
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.1654-2A>C
NM_017934.7(PHIP):c.1988T>G (p.Val663Gly) rs7747479
NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs)
NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)
NM_017934.7(PHIP):c.2041G>A (p.Val681Ile)
NM_017934.7(PHIP):c.2161C>T (p.Arg721Ter)
NM_017934.7(PHIP):c.2201+2092G>A rs1769538513
NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)
NM_017934.7(PHIP):c.2305_2306insGA (p.Pro769fs) rs1769197412
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
NM_017934.7(PHIP):c.2474T>G (p.Val825Gly)
NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)
NM_017934.7(PHIP):c.2499AGA[2] (p.Glu836del) rs765827406
NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter) rs2127718655
NM_017934.7(PHIP):c.2703dup (p.Val902fs) rs2127718540
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs) rs1562150844
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
NM_017934.7(PHIP):c.298_299del (p.Leu100fs) rs1554212744
NM_017934.7(PHIP):c.328C>A (p.Arg110Ser) rs768324201
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.41-7C>A
NM_017934.7(PHIP):c.439+5G>T
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter) rs2127760440
NM_017934.7(PHIP):c.50T>C (p.Phe17Ser) rs878854420
NM_017934.7(PHIP):c.50T>G (p.Phe17Cys) rs878854420
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs) rs1562203136
NM_017934.7(PHIP):c.562T>C (p.Cys188Arg) rs1772296823
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs) rs1554210073
NM_017934.7(PHIP):c.600+1G>C
NM_017934.7(PHIP):c.631G>A (p.Ala211Thr) rs1371788682
NM_017934.7(PHIP):c.668G>T (p.Gly223Val) rs1771386636
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer) rs2127748476
NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter) rs1562189451
NM_017934.7(PHIP):c.746T>A (p.Ile249Asn) rs2127748441
NM_017934.7(PHIP):c.763C>T (p.Arg255Ter) rs1064796868
NM_017934.7(PHIP):c.779del (p.Leu260fs) rs878854421
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845
NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523

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