ClinVar Miner

List of variants studied for benign neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys) rs763122049 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) rs1332140763 0.00003
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) rs141942131 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001083603.3(PTCH1):c.109del (p.Cys37fs) rs1554710890
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_001370259.2(MEN1):c.654+1del rs1057518903
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) rs1724332515
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_023110.3(FGFR1):c.1671del (p.Leu557fs) rs1816433701
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) rs1554079046
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.990-1G>A rs1554518790

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