List of variants in gene THOC2 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro)	rs797045018
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys)	rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)	rs1603255389
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)	rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp)	rs1556023928
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)	rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr)	rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro)	rs797045020
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)	rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G	rs1556005930
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe)	rs797045019
THOC2, 2.4-KB DEL, EX37-38DEL

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