ClinVar Miner

List of variants in gene combination GALK1, ITGB4 reported as uncertain significance for Junctional epidermolysis bullosa with pyloric atresia

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.5053+14C>T rs78884789 0.00949
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=) rs144339436 0.00077
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) rs151053969 0.00069
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) rs140577812 0.00041
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=) rs369145421 0.00031
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=) rs574417789 0.00021
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) rs138928712 0.00019
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp) rs150277911 0.00015
NM_000213.5(ITGB4):c.*3G>A rs375665623 0.00014
NM_000213.5(ITGB4):c.3794-9C>T rs369461189 0.00014
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=) rs140140182 0.00013
NM_000213.5(ITGB4):c.*58G>A rs569617597 0.00010
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg) rs140930313 0.00010
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) rs373278372 0.00010
NM_000213.5(ITGB4):c.4795C>T (p.Arg1599Cys) rs373902577 0.00009
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) rs147573071 0.00009
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=) rs754832163 0.00008
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=) rs376733146 0.00008
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) rs745935518 0.00007
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=) rs372195997 0.00006
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) rs375975797 0.00005
NM_000213.5(ITGB4):c.*45C>T rs200901360 0.00004
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe) rs376560109 0.00004
NM_000213.5(ITGB4):c.5092G>A (p.Glu1698Lys) rs776496019 0.00004
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=) rs138707718 0.00004
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly) rs755224034 0.00004
NM_000213.5(ITGB4):c.4937C>T (p.Pro1646Leu) rs563796869 0.00003
NM_000213.5(ITGB4):c.3977-4G>A rs369841673 0.00002
NM_000213.5(ITGB4):c.5053+15G>A rs375178466 0.00002
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) rs374857648 0.00001
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=) rs781085072 0.00001
NM_000213.5(ITGB4):c.4532C>A (p.Ser1511Tyr) rs374562982 0.00001
NM_000213.5(ITGB4):c.4564C>T (p.Arg1522Cys) rs772482963 0.00001
NM_000213.5(ITGB4):c.4598G>A (p.Arg1533His) rs751357499 0.00001
NM_000213.5(ITGB4):c.4719T>C (p.His1573=) rs1448839951 0.00001
NM_000213.5(ITGB4):c.5054-11T>C rs774785239 0.00001
NM_000213.5(ITGB4):c.5072G>A (p.Arg1691Gln) rs376139144 0.00001
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) rs774308604 0.00001
NM_000213.5(ITGB4):c.*171T>C rs2061554670
NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr) rs886053413
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=) rs372222796
NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His) rs200586694
NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu) rs886053414
NM_000213.5(ITGB4):c.4319-3C>T rs886053415
NM_000213.5(ITGB4):c.4319-7C>G rs376011638
NM_000213.5(ITGB4):c.4364C>T (p.Thr1455Ile)
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=) rs756626295
NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)
NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)
NM_000213.5(ITGB4):c.4708+2_4708+5del rs1568385893
NM_000213.5(ITGB4):c.4708+5G>C rs2061486620
NM_000213.5(ITGB4):c.4829G>A (p.Arg1610Gln) rs886053417
NM_000213.5(ITGB4):c.5053+10A>G rs886053418
NM_000213.5(ITGB4):c.5219-15A>G rs142184100
NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)

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