List of variants in gene combination ASIC4, SPEG reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)	rs531879999	0.00240
NM_005876.5(SPEG):c.6358C>T (p.Leu2120Phe)	rs201901718	0.00126
NM_005876.5(SPEG):c.7320G>C (p.Glu2440Asp)	rs754980175	0.00027
NM_005876.5(SPEG):c.6854C>T (p.Pro2285Leu)	rs199997533	0.00024
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)	rs376076241	0.00012
NM_005876.5(SPEG):c.7984G>A (p.Val2662Ile)	rs374618068	0.00006
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)	rs757903145	0.00001
NM_005876.5(SPEG):c.9361C>T (p.Arg3121Cys)	rs775299831	0.00001
NM_005876.5(SPEG):c.9661G>A (p.Ala3221Thr)	rs530008202	0.00001
NM_005876.5(SPEG):c.5871T>G (p.Asp1957Glu)
NM_005876.5(SPEG):c.6227G>A (p.Arg2076Gln)
NM_005876.5(SPEG):c.8972C>T (p.Thr2991Met)
NM_005876.5(SPEG):c.9184G>A (p.Val3062Met)	rs756716884
NM_005876.5(SPEG):c.9232G>A (p.Gly3078Ser)
NM_005876.5(SPEG):c.9323A>G (p.Gln3108Arg)	rs1575203746

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