List of variants in gene RMRP reported as pathogenic for ectodermal dysplasia syndrome

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: 38

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HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.6C>T	rs772443941	0.00016
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00015
NR_003051.4(RMRP):n.244A>G	rs551450545	0.00010
NC_000009.12:g.35658031_35658040dup	rs1554651507	0.00007
NR_003051.4(RMRP):n.264G>T	rs727502774	0.00006
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.196dup	rs796065036	0.00004
NR_003051.4(RMRP):n.-20_-1dup	rs1554651403	0.00001
NR_003051.4(RMRP):n.-21_-13dup	rs1563908167	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NC_000009.12:g.35657872C>T	rs753874439
NC_000009.12:g.35658018_35658034dup	rs878853178
NC_000009.12:g.35658021GTCCTCAGCTTC[3]	rs1554651400
NC_000009.12:g.35658021_35658034dup	rs1554651373
NC_000009.12:g.35658032_35658041dup	rs1554651524
NC_000009.12:g.35658036_35658042dup	rs1554651543
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC	rs727502776
NR_003051.3(RMRP):n.-24_-4dup	rs1563907883
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.3(RMRP):n.-6_-5insCCTGAG	rs1554651446
NR_003051.3(RMRP):n.-7_1dup8	rs752934195
NR_003051.3(RMRP):n.-8_-7ins17	rs1554651469
NR_003051.4(RMRP):n.-18_-17insTCTGTGAAGCTGAGGAC
NR_003051.4(RMRP):n.-18_-2dup	rs727502778
NR_003051.4(RMRP):n.-21_-2dup	rs1554651411
NR_003051.4(RMRP):n.-23_-14dup	rs1554651532
NR_003051.4(RMRP):n.-24_-3dup	rs1554651423
NR_003051.4(RMRP):n.-5_+5dup
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG	rs1554651471
NR_003051.4(RMRP):n.156G>T	rs752709977
NR_003051.4(RMRP):n.182G>A	rs1004469515
NR_003051.4(RMRP):n.184G>A	rs1554651153
NR_003051.4(RMRP):n.197C>T	rs948931144
NR_003051.4(RMRP):n.220A>G	rs936059863
NR_003051.4(RMRP):n.246G>C
NR_003051.4(RMRP):n.94dup	rs2131808768
NR_003051.4(RMRP):n.97_98dup	rs1340624774
RMRP, 1-BP DEL/21-BP INS, PROMOTER

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