ClinVar Miner

List of variants studied for agammaglobulinemia 5, autosomal dominant

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) rs3750319 0.60629
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) rs3750320 0.24050
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=) rs202218761 0.00011
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) rs150164316 0.00004
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) rs147311433 0.00002
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
NM_019594.4(LRRC8A):c.-2C>T
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) rs1840810037

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