List of variants in gene POLR1C reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	rs191582628	0.00010
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)	rs796052127	0.00006
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp)	rs141156009	0.00006
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser)	rs371802902	0.00003
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter)	rs387907020	0.00001
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg)	rs796052125
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile)	rs796052126
NM_203290.4(POLR1C):c.87del (p.Gly31fs)	rs2127686639
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del)	rs875989826
NM_203290.4(POLR1C):c.922+3_922+6del	rs1335699710
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile)	rs796052124

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