ClinVar Miner

List of variants in gene CCDC50 studied for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_178335.3(CCDC50):c.50-4C>G rs188384 0.65003
NM_178335.3(CCDC50):c.1242+10G>A rs211043 0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) rs364519 0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) rs293813 0.58148
NM_178335.3(CCDC50):c.651T>C (p.His217=) rs2028572 0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) rs2028574 0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) rs4677728 0.49101
NM_178335.3(CCDC50):c.976+6A>G rs4677729 0.49066
NM_178335.3(CCDC50):c.228C>T (p.Arg76=) rs11542549 0.30180
NM_178335.3(CCDC50):c.678A>G (p.Lys226=) rs2028573 0.18258
NM_178335.3(CCDC50):c.1137+19C>G rs1474188 0.05270
NM_178335.3(CCDC50):c.363A>T (p.Leu121Phe) rs35380043 0.03217
NM_178335.3(CCDC50):c.1396C>T (p.Arg466Trp) rs147604673 0.01345
NM_178335.3(CCDC50):c.1181A>G (p.Lys394Arg) rs114502673 0.00322
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_178335.3(CCDC50):c.626C>T (p.Ser209Leu) rs115771997 0.00082
NM_178335.3(CCDC50):c.1429+5G>A rs375535283 0.00038
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_178335.3(CCDC50):c.113-4C>G rs145892736 0.00007
NM_178335.3(CCDC50):c.546G>C (p.Glu182Asp) rs201472875 0.00006
NM_178335.3(CCDC50):c.153G>A (p.Leu51=) rs201015131 0.00004
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly) rs753554570 0.00004
NM_178335.3(CCDC50):c.1003G>A (p.Ala335Thr) rs727502917 0.00002
NM_178335.3(CCDC50):c.136G>A (p.Val46Ile) rs762006742 0.00001
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys) rs575240044 0.00001
NM_178335.3(CCDC50):c.697C>G (p.Pro233Ala) rs747154818 0.00001
NM_178335.3(CCDC50):c.804G>A (p.Gln268=) rs876657435 0.00001
NM_178335.3(CCDC50):c.821G>A (p.Arg274Gln) rs199527848 0.00001
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg) rs1064796789 0.00001
NM_178335.3(CCDC50):c.1157T>C (p.Met386Thr) rs775687066
NM_178335.3(CCDC50):c.1221A>C (p.Arg407Ser) rs727504888
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178335.3(CCDC50):c.1303A>C (p.Lys435Gln) rs1553844770
NM_178335.3(CCDC50):c.749A>G (p.Glu250Gly) rs727502916
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr) rs896068890

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