List of variants in gene combination OFD1, TRAPPC2 reported as pathogenic for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)
NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs)	rs587776750
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)	rs587776749
NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu)	rs1602717698
NM_001011658.4(TRAPPC2):c.216_217del (p.Ser73fs)	rs2046290303
NM_001011658.4(TRAPPC2):c.225del (p.Phe75fs)
NM_001011658.4(TRAPPC2):c.238+4T>C	rs587776753
NM_001011658.4(TRAPPC2):c.239-10_239-7del	rs2146773091
NM_001011658.4(TRAPPC2):c.239-11_239-9del	rs587777330
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs)	rs1602708047
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)	rs104894948
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)	rs587776751
NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs)	rs1602717625
NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer)	rs587776748
NM_001011658.4(TRAPPC2):c.91A>T (p.Lys31Ter)
NM_001011658.4(TRAPPC2):c.93+5G>A	rs587776752

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