List of variants in gene LRPPRC reported as uncertain significance by Counsyl

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_133259.4(LRPPRC):c.3901-6T>G	rs553466522	0.00010
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)	rs760016065	0.00009
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)	rs199727887	0.00009
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)	rs886056062	0.00006
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)	rs373011028	0.00006
NM_133259.4(LRPPRC):c.1369+5G>A	rs199628926	0.00003
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)	rs370537508	0.00003
NM_133259.4(LRPPRC):c.1582+7A>G	rs863225446	0.00001
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)	rs762224854	0.00001
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)	rs1163476569	0.00001
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)	rs373908553
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)	rs886056058
NM_133259.4(LRPPRC):c.1678-2dup	rs1553404545
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)	rs1391434905
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)	rs1553403993
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)	rs746311499
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)	rs1463658772
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)	rs774857058
NM_133259.4(LRPPRC):c.3148+2C>T	rs1553396068
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)	rs759297611
NM_133259.4(LRPPRC):c.3986-11_3986-8dup	rs764564351
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	rs148828179
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)	rs1293234237
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)	rs760874906
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)	rs774622259

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