List of variants in gene LOC112840921, OTOF studied for autosomal recessive disease

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His)	rs11893228	0.00337
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)	rs139767460	0.00144
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)	rs111033393	0.00133
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)	rs147070644	0.00044
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	rs199766465	0.00025
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=)	rs373568741	0.00018
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
NM_194248.3(OTOF):c.5040C>T (p.Arg1680=)	rs1664608827
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met)	rs12386239
NM_194248.3(OTOF):c.5103+2T>A	rs1323329701
NM_194248.3(OTOF):c.5104-1G>T	rs2148023761
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu)	rs529721333
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly)	rs2148023717
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe)	rs2148023735
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)	rs1664580718

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