ClinVar Miner

List of variants in gene ITGB4 reported as uncertain significance for epidermolysis bullosa, junctional 5A, intermediate

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val) rs144804175 0.00053
NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala) rs139287033 0.00053
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu) rs146500584 0.00035
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=) rs139146525 0.00029
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys) rs139933962 0.00022
NM_000213.5(ITGB4):c.738+3G>A rs374647847 0.00018
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp) rs200122430 0.00011
NM_000213.5(ITGB4):c.2578G>A (p.Gly860Ser) rs201523797 0.00007
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro) rs530916890 0.00007
NM_000213.5(ITGB4):c.1136G>A (p.Arg379Gln) rs367872059 0.00006
NM_000213.5(ITGB4):c.1936C>T (p.Arg646Cys) rs201350965 0.00006
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.2962+14G>A rs369351466 0.00004
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) rs750423295 0.00004
NM_000213.5(ITGB4):c.2782+10C>T rs757546708 0.00002
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly) rs370112615 0.00002
NM_000213.5(ITGB4):c.1093C>T (p.Arg365Trp) rs886053408 0.00001
NM_000213.5(ITGB4):c.1215+5G>A rs767613447 0.00001
NM_000213.5(ITGB4):c.1237C>T (p.Arg413Trp) rs778658308 0.00001
NM_000213.5(ITGB4):c.1878C>T (p.Cys626=) rs373343133 0.00001
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser) rs372890193 0.00001
NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn) rs765676725 0.00001
NM_000213.5(ITGB4):c.537C>T (p.Ser179=) rs201538482 0.00001
NM_000213.5(ITGB4):c.1036G>C (p.Gly346Arg)
NM_000213.5(ITGB4):c.1066G>A (p.Val356Met)
NM_000213.5(ITGB4):c.1091A>G (p.Asn364Ser)
NM_000213.5(ITGB4):c.1094G>A (p.Arg365Gln)
NM_000213.5(ITGB4):c.10C>T (p.Pro4Ser)
NM_000213.5(ITGB4):c.1100G>A (p.Arg367His)
NM_000213.5(ITGB4):c.1117C>T (p.Arg373Trp)
NM_000213.5(ITGB4):c.1139G>T (p.Gly380Val)
NM_000213.5(ITGB4):c.1145G>A (p.Arg382Gln)
NM_000213.5(ITGB4):c.1173G>C (p.Gln391His)
NM_000213.5(ITGB4):c.1178C>T (p.Thr393Met)
NM_000213.5(ITGB4):c.119A>G (p.Glu40Gly)
NM_000213.5(ITGB4):c.1205G>A (p.Arg402Gln)
NM_000213.5(ITGB4):c.1212A>C (p.Glu404Asp)
NM_000213.5(ITGB4):c.1216-9C>A
NM_000213.5(ITGB4):c.1216G>T (p.Gly406Cys)
NM_000213.5(ITGB4):c.1221A>G (p.Ile407Met)
NM_000213.5(ITGB4):c.1229T>C (p.Val410Ala)
NM_000213.5(ITGB4):c.1238G>A (p.Arg413Gln)
NM_000213.5(ITGB4):c.1371C>T (p.Cys457=)
NM_000213.5(ITGB4):c.1374G>C (p.Glu458Asp)
NM_000213.5(ITGB4):c.1379A>C (p.Gln460Pro)
NM_000213.5(ITGB4):c.1446C>T (p.Ser482=) rs8080369
NM_000213.5(ITGB4):c.145G>A (p.Ala49Thr)
NM_000213.5(ITGB4):c.14G>A (p.Arg5His)
NM_000213.5(ITGB4):c.1517A>C (p.Glu506Ala)
NM_000213.5(ITGB4):c.1522G>A (p.Glu508Lys)
NM_000213.5(ITGB4):c.1532C>T (p.Pro511Leu)
NM_000213.5(ITGB4):c.1552T>G (p.Cys518Gly)
NM_000213.5(ITGB4):c.1561G>A (p.Gly521Arg)
NM_000213.5(ITGB4):c.1564C>T (p.His522Tyr)
NM_000213.5(ITGB4):c.1582G>A (p.Glu528Lys)
NM_000213.5(ITGB4):c.1586G>A (p.Gly529Asp)
NM_000213.5(ITGB4):c.1609G>A (p.Glu537Lys)
NM_000213.5(ITGB4):c.1633C>T (p.Arg545Cys)
NM_000213.5(ITGB4):c.1672T>A (p.Ser558Thr)
NM_000213.5(ITGB4):c.1750G>A (p.Asp584Asn)
NM_000213.5(ITGB4):c.1759G>A (p.Gly587Arg)
NM_000213.5(ITGB4):c.1799G>A (p.Arg600His)
NM_000213.5(ITGB4):c.179G>A (p.Arg60His)
NM_000213.5(ITGB4):c.1829C>A (p.Thr610Lys)
NM_000213.5(ITGB4):c.1829C>T (p.Thr610Met)
NM_000213.5(ITGB4):c.1855T>C (p.Ser619Pro)
NM_000213.5(ITGB4):c.1856C>T (p.Ser619Leu)
NM_000213.5(ITGB4):c.1859C>T (p.Ala620Val)
NM_000213.5(ITGB4):c.1879G>A (p.Glu627Lys)
NM_000213.5(ITGB4):c.1908G>C (p.Gln636His)
NM_000213.5(ITGB4):c.1910C>T (p.Ala637Val)
NM_000213.5(ITGB4):c.1921G>A (p.Gly641Ser)
NM_000213.5(ITGB4):c.1948G>A (p.Glu650Lys)
NM_000213.5(ITGB4):c.194C>T (p.Ala65Val)
NM_000213.5(ITGB4):c.1972G>A (p.Val658Met)
NM_000213.5(ITGB4):c.1978G>A (p.Glu660Lys)
NM_000213.5(ITGB4):c.1991-13G>A
NM_000213.5(ITGB4):c.2021G>A (p.Arg674Gln)
NM_000213.5(ITGB4):c.2034C>G (p.Asp678Glu)
NM_000213.5(ITGB4):c.2056A>G (p.Met686Val)
NM_000213.5(ITGB4):c.2069G>A (p.Gly690Asp)
NM_000213.5(ITGB4):c.2069G>T (p.Gly690Val)
NM_000213.5(ITGB4):c.2071G>A (p.Ala691Thr)
NM_000213.5(ITGB4):c.2147C>T (p.Pro716Leu)
NM_000213.5(ITGB4):c.2220+5G>A
NM_000213.5(ITGB4):c.2240C>T (p.Pro747Leu)
NM_000213.5(ITGB4):c.2251C>A (p.Arg751=)
NM_000213.5(ITGB4):c.232G>A (p.Val78Met)
NM_000213.5(ITGB4):c.2344G>A (p.Gly782Arg)
NM_000213.5(ITGB4):c.2345G>A (p.Gly782Glu)
NM_000213.5(ITGB4):c.2348A>C (p.Asn783Thr)
NM_000213.5(ITGB4):c.2365G>A (p.Val789Met)
NM_000213.5(ITGB4):c.2398C>T (p.Arg800Trp)
NM_000213.5(ITGB4):c.2399G>A (p.Arg800Gln)
NM_000213.5(ITGB4):c.2426G>A (p.Ser809Asn)
NM_000213.5(ITGB4):c.2446+8C>T
NM_000213.5(ITGB4):c.2456G>T (p.Gly819Val)
NM_000213.5(ITGB4):c.2467C>T (p.Arg823Cys)
NM_000213.5(ITGB4):c.2473G>A (p.Ala825Thr)
NM_000213.5(ITGB4):c.2477G>A (p.Arg826His)
NM_000213.5(ITGB4):c.2488G>A (p.Glu830Lys)
NM_000213.5(ITGB4):c.2495T>C (p.Leu832Pro)
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr) rs183705877
NM_000213.5(ITGB4):c.2510C>A (p.Thr837Asn)
NM_000213.5(ITGB4):c.2513G>A (p.Arg838Gln)
NM_000213.5(ITGB4):c.2530C>T (p.Arg844Cys)
NM_000213.5(ITGB4):c.2531G>A (p.Arg844His)
NM_000213.5(ITGB4):c.2550C>T (p.Asn850=)
NM_000213.5(ITGB4):c.2557G>A (p.Glu853Lys)
NM_000213.5(ITGB4):c.2608C>T (p.Arg870Trp)
NM_000213.5(ITGB4):c.2609G>A (p.Arg870Gln)
NM_000213.5(ITGB4):c.2609G>C (p.Arg870Pro)
NM_000213.5(ITGB4):c.2621A>C (p.Asn874Thr)
NM_000213.5(ITGB4):c.2629A>C (p.Lys877Gln)
NM_000213.5(ITGB4):c.2669C>T (p.Ala890Val)
NM_000213.5(ITGB4):c.2683A>C (p.Lys895Gln)
NM_000213.5(ITGB4):c.2752C>G (p.Pro918Ala)
NM_000213.5(ITGB4):c.275T>C (p.Ile92Thr)
NM_000213.5(ITGB4):c.277G>A (p.Asp93Asn)
NM_000213.5(ITGB4):c.2782+11G>A
NM_000213.5(ITGB4):c.2788C>T (p.Arg930Trp)
NM_000213.5(ITGB4):c.2802G>T (p.Glu934Asp)
NM_000213.5(ITGB4):c.2833C>A (p.Arg945=)
NM_000213.5(ITGB4):c.2851C>T (p.Arg951Trp)
NM_000213.5(ITGB4):c.2852G>A (p.Arg951Gln)
NM_000213.5(ITGB4):c.285C>T (p.Thr95=)
NM_000213.5(ITGB4):c.289C>T (p.Arg97Trp)
NM_000213.5(ITGB4):c.2905G>A (p.Ala969Thr)
NM_000213.5(ITGB4):c.2908G>A (p.Gly970Ser)
NM_000213.5(ITGB4):c.2927G>A (p.Arg976His)
NM_000213.5(ITGB4):c.2930G>A (p.Arg977His)
NM_000213.5(ITGB4):c.293G>A (p.Arg98His)
NM_000213.5(ITGB4):c.2943C>T (p.Ile981=)
NM_000213.5(ITGB4):c.2961A>T (p.Gln987His)
NM_000213.5(ITGB4):c.296G>C (p.Ser99Thr)
NM_000213.5(ITGB4):c.2984A>G (p.Glu995Gly)
NM_000213.5(ITGB4):c.2990C>A (p.Pro997His)
NM_000213.5(ITGB4):c.2999C>G (p.Ser1000Trp)
NM_000213.5(ITGB4):c.3006C>A (p.Ser1002Arg)
NM_000213.5(ITGB4):c.3008G>A (p.Arg1003His)
NM_000213.5(ITGB4):c.3014A>G (p.Asp1005Gly)
NM_000213.5(ITGB4):c.3044G>A (p.Arg1015His)
NM_000213.5(ITGB4):c.304T>G (p.Ser102Ala)
NM_000213.5(ITGB4):c.3055G>A (p.Gly1019Ser)
NM_000213.5(ITGB4):c.3058G>A (p.Gly1020Arg)
NM_000213.5(ITGB4):c.3079C>T (p.Arg1027Cys)
NM_000213.5(ITGB4):c.309_310delinsAG (p.Gln104Glu) rs1568343603
NM_000213.5(ITGB4):c.3105C>T (p.Gly1035=)
NM_000213.5(ITGB4):c.3110G>A (p.Arg1037Gln)
NM_000213.5(ITGB4):c.3110G>T (p.Arg1037Leu)
NM_000213.5(ITGB4):c.3128A>T (p.Glu1043Val)
NM_000213.5(ITGB4):c.3131G>A (p.Gly1044Asp)
NM_000213.5(ITGB4):c.3168G>T (p.Glu1056Asp)
NM_000213.5(ITGB4):c.3199G>A (p.Val1067Ile)
NM_000213.5(ITGB4):c.320G>A (p.Arg107Gln)
NM_000213.5(ITGB4):c.3214C>T (p.Arg1072Trp)
NM_000213.5(ITGB4):c.3224A>C (p.Gln1075Pro)
NM_000213.5(ITGB4):c.3230G>A (p.Arg1077His)
NM_000213.5(ITGB4):c.3281A>G (p.Gln1094Arg)
NM_000213.5(ITGB4):c.3295A>G (p.Thr1099Ala)
NM_000213.5(ITGB4):c.3316+16G>A
NM_000213.5(ITGB4):c.3317-11T>C
NM_000213.5(ITGB4):c.3317-14A>G
NM_000213.5(ITGB4):c.3319G>A (p.Glu1107Lys)
NM_000213.5(ITGB4):c.331C>T (p.Arg111Trp)
NM_000213.5(ITGB4):c.332G>A (p.Arg111Gln)
NM_000213.5(ITGB4):c.3338C>A (p.Thr1113Lys)
NM_000213.5(ITGB4):c.3359A>G (p.Gln1120Arg)
NM_000213.5(ITGB4):c.3373G>A (p.Gly1125Ser)
NM_000213.5(ITGB4):c.3376G>A (p.Asp1126Asn)
NM_000213.5(ITGB4):c.3415G>T (p.Gly1139Trp)
NM_000213.5(ITGB4):c.3425A>G (p.Lys1142Arg)
NM_000213.5(ITGB4):c.3467G>A (p.Gly1156Glu)
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp) rs146269824
NM_000213.5(ITGB4):c.3472A>T (p.Arg1158Trp)
NM_000213.5(ITGB4):c.3475-5G>A
NM_000213.5(ITGB4):c.3475-6G>A
NM_000213.5(ITGB4):c.3475-7G>C
NM_000213.5(ITGB4):c.347G>A (p.Arg116Gln)
NM_000213.5(ITGB4):c.3500C>T (p.Ser1167Phe)
NM_000213.5(ITGB4):c.3532G>A (p.Val1178Met)
NM_000213.5(ITGB4):c.3591C>T (p.Cys1197=)
NM_000213.5(ITGB4):c.3601G>A (p.Ala1201Thr)
NM_000213.5(ITGB4):c.3640C>T (p.Arg1214Cys)
NM_000213.5(ITGB4):c.3641G>A (p.Arg1214His)
NM_000213.5(ITGB4):c.3701C>T (p.Thr1234Met)
NM_000213.5(ITGB4):c.3702G>A (p.Thr1234=)
NM_000213.5(ITGB4):c.3742G>A (p.Gly1248Ser)
NM_000213.5(ITGB4):c.3752C>A (p.Thr1251Lys)
NM_000213.5(ITGB4):c.3780C>G (p.Val1260=)
NM_000213.5(ITGB4):c.3784G>A (p.Asp1262Asn)
NM_000213.5(ITGB4):c.388G>A (p.Val130Met)
NM_000213.5(ITGB4):c.407T>A (p.Met136Lys)
NM_000213.5(ITGB4):c.473G>A (p.Arg158Gln)
NM_000213.5(ITGB4):c.496G>A (p.Asp166Asn)
NM_000213.5(ITGB4):c.578C>T (p.Pro193Leu)
NM_000213.5(ITGB4):c.58G>A (p.Val20Ile)
NM_000213.5(ITGB4):c.605_607del (p.Ser202del)
NM_000213.5(ITGB4):c.638T>C (p.Val213Ala)
NM_000213.5(ITGB4):c.674T>A (p.Ile225Asn)
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) rs2060802259
NM_000213.5(ITGB4):c.701G>A (p.Gly234Asp)
NM_000213.5(ITGB4):c.725C>T (p.Thr242Ile)
NM_000213.5(ITGB4):c.811G>C (p.Ala271Pro)
NM_000213.5(ITGB4):c.826G>A (p.Val276Met)
NM_000213.5(ITGB4):c.853G>A (p.Asp285Asn)
NM_000213.5(ITGB4):c.85C>T (p.Arg29Cys)
NM_000213.5(ITGB4):c.860G>A (p.Arg287Gln)
NM_000213.5(ITGB4):c.86G>A (p.Arg29His)
NM_000213.5(ITGB4):c.935G>A (p.Arg312His)
NM_000213.5(ITGB4):c.950ACA[1] (p.Asn318del)
NM_000213.5(ITGB4):c.986C>G (p.Ser329Cys)
NM_000213.5(ITGB4):c.989A>G (p.Tyr330Cys)
NM_000213.5(ITGB4):c.995A>G (p.Tyr332Cys)

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