ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.1955G>A (p.Arg652His) rs587778549 0.00002
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly) rs1487025591 0.00001
NM_001042492.3(NF1):c.1722-24A>G rs1567845793
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln) rs1057521848
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr) rs1060500293
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu) rs1567835041

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