List of variants in gene combination S100PBP, YARS1 reported as uncertain significance for Charcot-Marie-Tooth disease dominant intermediate C

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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_003680.3(YARS1):c.-269C>T	rs772899682	0.00056
NM_003680.4(YARS1):c.-110G>A	rs748353138	0.00024
NM_003680.3(YARS1):c.-157G>A	rs1224825373	0.00003
NM_003680.3(YARS1):c.-415C>T	rs918787397	0.00002
NM_003680.3(YARS1):c.-167T>A	rs1057515514	0.00001
NM_003680.3(YARS1):c.-333C>T	rs1057515442	0.00001
NM_003680.4(YARS1):c.57+1G>A	rs1309507387	0.00001
NM_003680.3(YARS1):c.-260G>A	rs905903653
NM_003680.3(YARS1):c.-441G>C	rs1483819380
NM_003680.3(YARS1):c.-620A>C	rs1057515550
NM_003680.4(YARS1):c.17G>A (p.Ser6Asn)	rs751101041
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)	rs763337272
NM_003680.4(YARS1):c.41T>C (p.Ile14Thr)	rs1553127237
NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)	rs2523458616
NM_003680.4(YARS1):c.44C>A (p.Thr15Asn)	rs1638772500
NM_003680.4(YARS1):c.47G>A (p.Arg16Gln)
NM_003680.4(YARS1):c.57+1G>T	rs1309507387
NM_003680.4(YARS1):c.57+4A>T	rs2148620986

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