List of variants in gene POLR1A reported as uncertain significance by GeneDx

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_015425.6(POLR1A):c.2000G>A (p.Arg667His)	rs551886268	0.00013
NM_015425.6(POLR1A):c.4832C>T (p.Thr1611Met)	rs778229105	0.00002
NM_015425.6(POLR1A):c.1111G>C (p.Asp371His)	rs1673333512	0.00001
NM_015425.6(POLR1A):c.2255C>T (p.Ala752Val)	rs200668123	0.00001
NM_015425.6(POLR1A):c.2387C>G (p.Thr796Ser)	rs1064796322	0.00001
NM_015425.6(POLR1A):c.1082_1085delinsT (p.Asp361_Glu362delinsVal)
NM_015425.6(POLR1A):c.1162T>C (p.Tyr388His)	rs770680979
NM_015425.6(POLR1A):c.1237A>G (p.Lys413Glu)	rs1558780023
NM_015425.6(POLR1A):c.1306C>T (p.Arg436Ter)	rs2466441203
NM_015425.6(POLR1A):c.176A>T (p.Asp59Val)	rs1057524435
NM_015425.6(POLR1A):c.2583_2586del (p.Ile861_Asp862insTer)	rs2466358228
NM_015425.6(POLR1A):c.2974A>C (p.Ile992Leu)	rs977229991
NM_015425.6(POLR1A):c.3280C>T (p.Gln1094Ter)	rs2104390512
NM_015425.6(POLR1A):c.3394C>T (p.Arg1132Ter)	rs1672620899
NM_015425.6(POLR1A):c.4161G>A (p.Arg1387=)	rs2466316443
NM_015425.6(POLR1A):c.4747A>T (p.Ile1583Phe)	rs2466302534
NM_015425.6(POLR1A):c.737A>T (p.Glu246Val)
NM_015425.6(POLR1A):c.889T>C (p.Phe297Leu)	rs2466454416

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