List of variants in gene LOC130067016, LZTR1 studied for LZTR1-related schwannomatosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)	rs764439278	0.00004
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)	rs762434811	0.00001
NM_006767.4(LZTR1):c.47T>C (p.Leu16Pro)	rs578100969	0.00001
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)	rs375788038	0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)	rs770762358	0.00001
NM_006767.4(LZTR1):c.104C>T (p.Ser35Leu)
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)	rs575193991
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)	rs575193991
NM_006767.4(LZTR1):c.23G>T (p.Gly8Val)
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	rs756485244
NM_006767.4(LZTR1):c.27del (p.Gln10fs)	rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)	rs587777613
NM_006767.4(LZTR1):c.46del (p.Leu16fs)	rs35574094
NM_006767.4(LZTR1):c.49G>A (p.Ala17Thr)
NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr)	rs776383010
NM_006767.4(LZTR1):c.94C>T (p.His32Tyr)

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