List of variants in gene NF1 reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)	rs199474773
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	rs1131691118
NM_001042492.3(NF1):c.1185+5G>C	rs1597682182
NM_001042492.3(NF1):c.1392+2_1392+8del	rs2544811514
NM_001042492.3(NF1):c.1641+2_1641+3del	rs2544841054
NM_001042492.3(NF1):c.1722-3C>A	rs770211384
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)	rs1131691132
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)	rs199474746
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser)	rs2151429494
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)	rs1555614462
NM_001042492.3(NF1):c.2991-2A>G	rs1555614495
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)	rs863224447
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del)	rs2069327013
NM_001042492.3(NF1):c.5812+267A>G
NM_001042492.3(NF1):c.5813-177A>C	rs2069594174
NM_001042492.3(NF1):c.6428-3C>G	rs374014162

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