ClinVar Miner

List of variants in gene FIG4 studied for Yunis-Varon syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.1751-16A>G rs200778905 0.00026
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) rs587777713 0.00002
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) rs774499394 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) rs754970037 0.00001
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) rs397514707 0.00001
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs) rs397509394
NM_014845.6(FIG4):c.1583+1G>T rs781622824
NM_014845.6(FIG4):c.1750+1del rs764770160
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) rs750712213
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val) rs587777716
NM_014845.6(FIG4):c.2376+2T>G rs756308787
NM_014845.6(FIG4):c.290-2A>G rs587777715
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) rs397509395
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) rs1583671246

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