ClinVar Miner

List of variants in gene RBP3 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) rs139299230 0.00055
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) rs147796755 0.00015
NM_002900.3(RBP3):c.2021G>A (p.Arg674His) rs373691531 0.00012
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) rs146153708 0.00012
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) rs368898051 0.00012
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) rs142945423 0.00010
NM_002900.3(RBP3):c.2498G>A (p.Arg833His) rs200783520 0.00006
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) rs201185969 0.00004
NM_002900.3(RBP3):c.3388+4C>T rs375541479 0.00004
NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) rs782671340 0.00004
NM_002900.3(RBP3):c.1328G>A (p.Arg443His) rs781844060 0.00002
NM_002900.3(RBP3):c.3026A>T (p.Asp1009Val) rs781946449 0.00002
NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) rs202017297 0.00001
NM_002900.3(RBP3):c.1829G>C (p.Gly610Ala) rs781924662 0.00001
NM_002900.3(RBP3):c.2491G>A (p.Gly831Ser) rs782324558 0.00001
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) rs782519239 0.00001
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) rs200239015 0.00001
NM_002900.3(RBP3):c.1068C>G (p.Ser356Arg) rs532818776
NM_002900.3(RBP3):c.1113G>C (p.Lys371Asn)
NM_002900.3(RBP3):c.1343C>T (p.Ala448Val)
NM_002900.3(RBP3):c.1366T>A (p.Leu456Met)
NM_002900.3(RBP3):c.1618C>T (p.Leu540Phe)
NM_002900.3(RBP3):c.1637C>T (p.Ala546Val)
NM_002900.3(RBP3):c.2348G>A (p.Arg783His)
NM_002900.3(RBP3):c.3221C>T (p.Thr1074Met)
NM_002900.3(RBP3):c.3253A>G (p.Ile1085Val)
NM_002900.3(RBP3):c.3432C>A (p.Ser1144Arg)
NM_002900.3(RBP3):c.3661G>A (p.Glu1221Lys) rs555568551
NM_002900.3(RBP3):c.3681G>C (p.Lys1227Asn)
NM_002900.3(RBP3):c.421C>T (p.Gln141Ter)
NM_002900.3(RBP3):c.633G>A (p.Trp211Ter)
NM_002900.3(RBP3):c.759C>G (p.Ile253Met)

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