ClinVar Miner

List of variants studied for Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.1170+4C>T rs201991604 0.00052
NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile) rs199874738 0.00021
NM_018668.5(VPS33B):c.136A>T (p.Met46Leu) rs202141764 0.00021
NM_018668.5(VPS33B):c.637G>A (p.Glu213Lys) rs951699405 0.00013
NM_018668.5(VPS33B):c.499-3C>G rs201919090 0.00009
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn) rs369726600 0.00007
NM_018668.5(VPS33B):c.662G>A (p.Arg221Gln) rs377754864 0.00006
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) rs368124813 0.00005
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) rs868354713 0.00004
NM_018668.5(VPS33B):c.122T>C (p.Ile41Thr) rs757313661 0.00003
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.403+2T>A rs769333468 0.00002
NM_018668.5(VPS33B):c.1454G>A (p.Arg485His) rs141601851 0.00001
NM_018668.5(VPS33B):c.239+5G>A rs372769808 0.00001
NM_018668.5(VPS33B):c.240-1G>C rs1360462093 0.00001
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser) rs748609085 0.00001
NM_018668.5(VPS33B):c.874G>A (p.Glu292Lys) rs150252392 0.00001
NM_018668.5(VPS33B):c.917G>A (p.Arg306Gln) rs200733204 0.00001
NM_018668.5(VPS33B):c.1024A>T (p.Ser342Cys)
NM_018668.5(VPS33B):c.1030+1G>A
NM_018668.5(VPS33B):c.1031-10C>T
NM_018668.5(VPS33B):c.1057A>C (p.Lys353Gln)
NM_018668.5(VPS33B):c.1067C>T (p.Thr356Ile)
NM_018668.5(VPS33B):c.1123A>G (p.Asn375Asp)
NM_018668.5(VPS33B):c.1180A>G (p.Ile394Val)
NM_018668.5(VPS33B):c.1193G>C (p.Arg398Pro)
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)
NM_018668.5(VPS33B):c.1250C>A (p.Ser417Tyr)
NM_018668.5(VPS33B):c.1283del (p.Pro428fs)
NM_018668.5(VPS33B):c.1307A>G (p.Asn436Ser)
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.5(VPS33B):c.1331C>T (p.Thr444Met)
NM_018668.5(VPS33B):c.133C>G (p.Leu45Val)
NM_018668.5(VPS33B):c.133_136delinsATCT (p.Leu45_Met46delinsIleLeu) rs1057518553
NM_018668.5(VPS33B):c.1357A>G (p.Thr453Ala)
NM_018668.5(VPS33B):c.1363G>A (p.Val455Met)
NM_018668.5(VPS33B):c.1384C>T (p.Leu462=)
NM_018668.5(VPS33B):c.1395C>A (p.Asp465Glu)
NM_018668.5(VPS33B):c.1409A>G (p.Lys470Arg)
NM_018668.5(VPS33B):c.1479+3A>T
NM_018668.5(VPS33B):c.1480-1G>T
NM_018668.5(VPS33B):c.1487G>A (p.Arg496His)
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.5(VPS33B):c.1516C>G (p.Pro506Ala)
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.5(VPS33B):c.1520G>A (p.Arg507Gln)
NM_018668.5(VPS33B):c.1565G>A (p.Cys522Tyr)
NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)
NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)
NM_018668.5(VPS33B):c.1637G>A (p.Cys546Tyr)
NM_018668.5(VPS33B):c.163G>A (p.Val55Ile)
NM_018668.5(VPS33B):c.1660A>G (p.Met554Val)
NM_018668.5(VPS33B):c.1663A>T (p.Thr555Ser)
NM_018668.5(VPS33B):c.1670A>C (p.Glu557Ala)
NM_018668.5(VPS33B):c.1672G>C (p.Asp558His)
NM_018668.5(VPS33B):c.1697G>C (p.Arg566Pro)
NM_018668.5(VPS33B):c.1699C>T (p.Leu567Phe)
NM_018668.5(VPS33B):c.1700T>C (p.Leu567Pro)
NM_018668.5(VPS33B):c.1768_1771del (p.Glu590fs)
NM_018668.5(VPS33B):c.177+1G>A
NM_018668.5(VPS33B):c.1774+3A>G
NM_018668.5(VPS33B):c.1797G>C (p.Thr599=)
NM_018668.5(VPS33B):c.1816G>A (p.Ala606Thr)
NM_018668.5(VPS33B):c.1840_1841delinsCT (p.Glu614Leu)
NM_018668.5(VPS33B):c.202A>C (p.Lys68Gln)
NM_018668.5(VPS33B):c.263G>A (p.Arg88His)
NM_018668.5(VPS33B):c.26C>A (p.Ala9Asp)
NM_018668.5(VPS33B):c.274A>T (p.Met92Leu)
NM_018668.5(VPS33B):c.275T>C (p.Met92Thr)
NM_018668.5(VPS33B):c.290-1G>A
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter) rs1057519063
NM_018668.5(VPS33B):c.320G>A (p.Arg107Gln)
NM_018668.5(VPS33B):c.326G>A (p.Arg109His)
NM_018668.5(VPS33B):c.344T>G (p.Phe115Cys)
NM_018668.5(VPS33B):c.398A>T (p.Tyr133Phe)
NM_018668.5(VPS33B):c.413G>A (p.Cys138Tyr)
NM_018668.5(VPS33B):c.415G>A (p.Asp139Asn)
NM_018668.5(VPS33B):c.430T>G (p.Ser144Ala)
NM_018668.5(VPS33B):c.440C>T (p.Pro147Leu)
NM_018668.5(VPS33B):c.489T>A (p.Asp163Glu)
NM_018668.5(VPS33B):c.546_548del (p.Leu183del)
NM_018668.5(VPS33B):c.581A>C (p.Tyr194Ser)
NM_018668.5(VPS33B):c.593G>A (p.Arg198Lys)
NM_018668.5(VPS33B):c.599C>T (p.Ala200Val)
NM_018668.5(VPS33B):c.600del (p.Lys201fs)
NM_018668.5(VPS33B):c.655A>G (p.Lys219Glu)
NM_018668.5(VPS33B):c.65C>T (p.Ala22Val)
NM_018668.5(VPS33B):c.672_673del (p.Glu224fs)
NM_018668.5(VPS33B):c.701-18C>G
NM_018668.5(VPS33B):c.728C>T (p.Ser243Phe)
NM_018668.5(VPS33B):c.757G>A (p.Asp253Asn)
NM_018668.5(VPS33B):c.778+1G>T
NM_018668.5(VPS33B):c.82T>C (p.Tyr28His)
NM_018668.5(VPS33B):c.844G>A (p.Glu282Lys)
NM_018668.5(VPS33B):c.852+6G>A
NM_018668.5(VPS33B):c.853-12C>G
NM_018668.5(VPS33B):c.896G>C (p.Gly299Ala)
NM_018668.5(VPS33B):c.913G>T (p.Ala305Ser)
NM_018668.5(VPS33B):c.934T>C (p.Tyr312His)
NM_018668.5(VPS33B):c.943C>T (p.Arg315Trp)

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