List of variants in gene TH reported as likely pathogenic by Invitae

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1358G>A (p.Arg453His)	rs759599321	0.00009
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000360.4(TH):c.1047+1G>C	rs1340482195	0.00002
NM_000360.4(TH):c.644+1G>A	rs1266265578	0.00002
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000360.4(TH):c.1300T>C (p.Ser434Pro)	rs1367289835	0.00001
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr)	rs200751977	0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NC_000011.10:g.(?_2166470)_(2168675_?)del
NM_000360.4(TH):c.1047+1G>T
NM_000360.4(TH):c.1048-2A>G	rs2133691221
NM_000360.4(TH):c.1105-1G>T	rs2133690469
NM_000360.4(TH):c.1200+2T>C	rs2133690169
NM_000360.4(TH):c.1201-1G>A	rs2133689319
NM_000360.4(TH):c.1201-2_1201-1delinsCC	rs2133689324
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
NM_000360.4(TH):c.1357C>T (p.Arg453Cys)	rs755922032
NM_000360.4(TH):c.312+1G>A	rs1554923802
NM_000360.4(TH):c.487+1G>C	rs1554923513
NM_000360.4(TH):c.487+2T>C	rs1057517003
NM_000360.4(TH):c.488-1G>A	rs1285458218
NM_000360.4(TH):c.488-1G>T	rs1285458218
NM_000360.4(TH):c.576+2T>G	rs2133696288
NM_000360.4(TH):c.577-2A>G
NM_000360.4(TH):c.577-2A>T
NM_000360.4(TH):c.645-2A>G	rs1590168368
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
NM_000360.4(TH):c.841+1G>T	rs2133693369
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.90+14T>A
NM_000360.4(TH):c.977+1G>A	rs1057516736
NM_000360.4(TH):c.977+1del
NM_000360.4(TH):c.978-1G>A

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