List of variants in gene RPS19 reported as likely pathogenic

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001022.4(RPS19):c.120del (p.Lys41fs)
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)	rs2513667328
NM_001022.4(RPS19):c.14del (p.Thr5fs)	rs2513666004
NM_001022.4(RPS19):c.166C>G (p.Arg56Gly)	rs2513667436
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)	rs2513667441
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)	rs2513667441
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)	rs1555839190
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)	rs2513682836
NM_001022.4(RPS19):c.178A>C (p.Thr60Pro)	rs782637049
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)	rs1600621248
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)	rs782627671
NM_001022.4(RPS19):c.302G>A (p.Arg101His)	rs2123284131
NM_001022.4(RPS19):c.302G>C (p.Arg101Pro)	rs2123284131
NM_001022.4(RPS19):c.31C>T (p.Gln11Ter)
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)	rs1064794604
NM_001022.4(RPS19):c.356+1G>A	rs879993801
NM_001022.4(RPS19):c.356+3A>C	rs1555841379
NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)	rs2074126696
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)	rs1060503688
NM_001022.4(RPS19):c.411+2_411+6del	rs2513685131
NM_001022.4(RPS19):c.48_49del (p.Arg16fs)
NM_001022.4(RPS19):c.49G>C (p.Ala17Pro)	rs782329429
NM_001022.4(RPS19):c.71+1G>C	rs2123256342
NM_001022.4(RPS19):c.71del (p.Lys24fs)	rs2513666238
NM_001022.4(RPS19):c.72-1G>A	rs146366047
NM_001022.4(RPS19):c.72-1G>C	rs146366047

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