ClinVar Miner

List of variants studied for schwannoma by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.*359G>A rs572307337 0.00217
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_000268.4(NF2):c.114+20G>T rs746868503 0.00016
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_000268.4(NF2):c.1447-11C>T rs571246532 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514 0.00001
NM_000268.4(NF2):c.674G>A (p.Arg225Gln) rs543087642 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686

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