ClinVar Miner

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

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.3180T>C (p.Asp1060=) rs7742431 0.48062
NM_017934.7(PHIP):c.2537+40G>A rs1890229 0.44448
NM_017934.7(PHIP):c.4155C>T (p.Val1385=) rs1984195 0.43860
NM_017934.7(PHIP):c.2017+48G>A rs11752126 0.41057
NM_017934.7(PHIP):c.4228C>T (p.Leu1410=) rs2275290 0.34422
NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro) rs9350797 0.26957
NM_017934.7(PHIP):c.2832A>G (p.Thr944=) rs12209235 0.05282
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00016
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.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter) rs1304822359 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.2888A>G (p.Glu963Gly) rs2127714980
NM_017934.7(PHIP):c.2890-2A>G
NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)
NM_017934.7(PHIP):c.298_299del (p.Leu100fs) rs1554212744
NM_017934.7(PHIP):c.2T>C (p.Met1Thr) rs1774283406
NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met) rs2127705231
NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter) rs1767424632
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer) rs1562134961
NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter) rs1767406859
NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)
NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)
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.3317G>A (p.Cys1106Tyr) rs2127701393
NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter) rs1562128924
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
NM_017934.7(PHIP):c.3502dup (p.Ile1168fs) rs1766898088
NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter) rs1554196907
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer) rs1562127631
NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala) rs764645984
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs) rs1766794792
NM_017934.7(PHIP):c.3656+1242A>T rs1582111930
NM_017934.7(PHIP):c.3782+3_3782+6del rs1131691771
NM_017934.7(PHIP):c.3782+4A>C
NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)
NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter) rs2127690980
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter) rs1582100341
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
NM_017934.7(PHIP):c.40+1G>A rs2127785060
NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)
NM_017934.7(PHIP):c.41-7C>A
NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)
NM_017934.7(PHIP):c.4236T>A (p.Ala1412=) rs2275291
NM_017934.7(PHIP):c.4370+1G>A
NM_017934.7(PHIP):c.439+5G>T
NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter) rs1554194287
NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys) rs1483958249
NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)
NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)
NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile) rs138108985
NM_017934.7(PHIP):c.4570del (p.Ser1524fs) rs1562114190
NM_017934.7(PHIP):c.4630+2_4630+5del rs2127682146
NM_017934.7(PHIP):c.4631-2A>T rs1773759539
NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val) rs776659876
NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter) rs2127760440
NM_017934.7(PHIP):c.4979del (p.Gly1660fs)
NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)
NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)
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.5112T>G (p.Asp1704Glu)
NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)
NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter) rs2127677390
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
Single allele

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