ClinVar Miner

List of variants reported as benign for X-linked agammaglobulinemia with growth hormone deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_000061.3(BTK):c.531T>C (p.Pro177=) rs148358153 0.00738
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000061.3(BTK):c.1698G>A (p.Pro566=) rs3208812 0.00044
NM_000061.3(BTK):c.707G>A (p.Arg236Gln) rs147036606 0.00036
NM_000061.3(BTK):c.1701A>G (p.Glu567=) rs146681416 0.00032
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000061.3(BTK):c.625G>T (p.Ala209Ser) rs138352992 0.00028
NM_000061.3(BTK):c.1566+18T>C rs367698178 0.00012
NM_000061.3(BTK):c.1104A>G (p.Gly368=) rs781940603 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000061.3(BTK):c.1750+10T>C rs374131821 0.00005
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn) rs782813365 0.00004
NM_000061.3(BTK):c.1350-17C>A rs563329397 0.00002
NM_000061.3(BTK):c.520+13A>G rs201408619 0.00002
NM_000061.3(BTK):c.240+7A>C rs782299012 0.00001
NM_000061.3(BTK):c.520+16G>A rs782819971 0.00001
NM_000061.3(BTK):c.1011T>C (p.Cys337=)
NM_000061.3(BTK):c.1102+7A>G
NM_000061.3(BTK):c.1177+7C>T
NM_000061.3(BTK):c.1178-12C>T
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
NM_000061.3(BTK):c.1632-20A>C
NM_000061.3(BTK):c.1751-17T>C
NM_000061.3(BTK):c.240+12_240+24del
NM_000061.3(BTK):c.241-16dup rs1401131061
NM_000061.3(BTK):c.241-3C>T
NM_000061.3(BTK):c.309+11T>C
NM_000061.3(BTK):c.310-20C>A
NM_000061.3(BTK):c.310-8C>T
NM_000061.3(BTK):c.345C>T (p.Ser115=) rs782476406
NM_000061.3(BTK):c.414G>T (p.Leu138=)
NM_000061.3(BTK):c.520+15C>G
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.521-5del
NM_000061.3(BTK):c.777-17C>A
NM_000061.3(BTK):c.895-11C>T

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