List of variants in gene combination LOC127814297, POU4F3 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg)	rs148985828	0.00016
NM_002700.3(POU4F3):c.624G>A (p.Val208=)	rs759713394	0.00010
NM_002700.3(POU4F3):c.214C>G (p.His72Asp)	rs370712489	0.00009
NM_002700.3(POU4F3):c.24G>A (p.Gln8=)	rs764308870	0.00006
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)	rs756195567	0.00005
NM_002700.3(POU4F3):c.405G>A (p.Pro135=)	rs145372405	0.00004
NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu)	rs770000759	0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser)	rs200286254	0.00002
NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp)	rs762622438	0.00001
NM_002700.3(POU4F3):c.171C>G (p.Ala57=)	rs781289197	0.00001
NM_002700.3(POU4F3):c.327C>A (p.His109Gln)	rs1280898301	0.00001
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)	rs1760423963	0.00001
NM_002700.3(POU4F3):c.442C>T (p.His148Tyr)	rs761965263	0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)	rs746613906	0.00001
NM_002700.3(POU4F3):c.591G>A (p.Arg197=)	rs886060064	0.00001
NM_002700.3(POU4F3):c.-44C>A	rs764967073
NM_002700.3(POU4F3):c.-79C>A	rs563020230
NM_002700.3(POU4F3):c.309C>T (p.Leu103=)	rs141235724
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr)	rs754773365
NM_002700.3(POU4F3):c.508C>T (p.His170Tyr)	rs1190889679
NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys)	rs886060063
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro)	rs1760429451
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)
NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala)	rs1020008447
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys)	rs1465371108
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val)	rs765036368
NM_002700.3(POU4F3):c.960del (p.Trp321fs)

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