ClinVar Miner

List of variants in gene BCORL1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001379451.1(BCORL1):c.882G>A (p.Pro294=) rs200510623 0.00070
NM_001379451.1(BCORL1):c.280G>A (p.Asp94Asn) rs139887979 0.00068
NM_001379451.1(BCORL1):c.2648G>A (p.Gly883Glu) rs138477961 0.00050
NM_001379451.1(BCORL1):c.3555G>A (p.Pro1185=) rs61754128 0.00027
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln) rs201843717 0.00022
NM_001379451.1(BCORL1):c.62G>A (p.Arg21His) rs778701486 0.00017
NM_001379451.1(BCORL1):c.1065G>A (p.Val355=)
NM_001379451.1(BCORL1):c.1092C>T (p.Ser364=)
NM_001379451.1(BCORL1):c.1791C>G (p.Thr597=)
NM_001379451.1(BCORL1):c.2016C>T (p.Ala672=)
NM_001379451.1(BCORL1):c.214C>T (p.Arg72Trp)
NM_001379451.1(BCORL1):c.2664A>G (p.Gln888=)
NM_001379451.1(BCORL1):c.3269G>C (p.Arg1090Pro)
NM_001379451.1(BCORL1):c.3415G>A (p.Val1139Met)
NM_001379451.1(BCORL1):c.3570C>T (p.Ser1190=)
NM_001379451.1(BCORL1):c.3609T>A (p.Gly1203=)
NM_001379451.1(BCORL1):c.387C>T (p.Ser129=)
NM_001379451.1(BCORL1):c.3882C>T (p.His1294=)
NM_001379451.1(BCORL1):c.4146C>A (p.Asn1382Lys)
NM_001379451.1(BCORL1):c.4188A>C (p.Pro1396=)
NM_001379451.1(BCORL1):c.429A>T (p.Pro143=)
NM_001379451.1(BCORL1):c.4306-4C>T
NM_001379451.1(BCORL1):c.4381A>G (p.Thr1461Ala)
NM_001379451.1(BCORL1):c.5007T>C (p.Asp1669=)
NM_001379451.1(BCORL1):c.784C>G (p.Pro262Ala)
NM_001379451.1(BCORL1):c.912G>A (p.Pro304=)

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