ClinVar Miner

List of variants in gene RPN2 reported as likely benign for Congenital disorder of glycosylation

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_002951.5(RPN2):c.1121G>A (p.Gly374Asp) rs117475222 0.01054
NM_002951.5(RPN2):c.1014C>T (p.Asn338=) rs138894622 0.00086
NM_002951.5(RPN2):c.867+12A>G rs200663601 0.00063
NM_002951.5(RPN2):c.188C>T (p.Ala63Val) rs144538512 0.00043
NM_002951.5(RPN2):c.1594G>A (p.Glu532Lys) rs140556886 0.00041
NM_002951.5(RPN2):c.1653G>A (p.Ser551=) rs150024301 0.00025
NM_002951.5(RPN2):c.986+17T>A rs368786437 0.00023
NM_002951.5(RPN2):c.394C>T (p.Leu132=) rs144151309 0.00015
NM_002951.5(RPN2):c.1582-6C>G rs376939930 0.00013
NM_002951.5(RPN2):c.1398T>G (p.Ser466=) rs372658734 0.00011
NM_002951.5(RPN2):c.14-9C>T rs201610870 0.00011
NM_002951.5(RPN2):c.1581+20T>G rs200360517 0.00007
NM_002951.5(RPN2):c.714C>T (p.Asn238=) rs769587237 0.00007
NM_002951.5(RPN2):c.267C>T (p.Tyr89=) rs376223839 0.00003
NM_002951.5(RPN2):c.1536G>A (p.Ser512=) rs557396469 0.00002
NM_002951.5(RPN2):c.1476C>T (p.Asn492=) rs754713504 0.00001
NM_002951.5(RPN2):c.1485C>T (p.Leu495=) rs1040175318 0.00001
NM_002951.5(RPN2):c.1677+20G>A rs181588459 0.00001
NM_002951.5(RPN2):c.475C>T (p.Leu159=) rs117835643 0.00001
NM_002951.5(RPN2):c.840C>T (p.Ser280=) rs535586576 0.00001
NM_002951.5(RPN2):c.99C>T (p.Asp33=) rs62206558 0.00001
NM_002951.5(RPN2):c.1093-12A>G
NM_002951.5(RPN2):c.1147G>A (p.Val383Met) rs367758574
NM_002951.5(RPN2):c.1299+12A>T
NM_002951.5(RPN2):c.1302A>G (p.Thr434=)
NM_002951.5(RPN2):c.1353C>T (p.Ala451=) rs200454814
NM_002951.5(RPN2):c.1371C>T (p.Asn457=)
NM_002951.5(RPN2):c.1372G>A (p.Val458Met) rs114917981
NM_002951.5(RPN2):c.14-4C>G
NM_002951.5(RPN2):c.1518T>C (p.Pro506=)
NM_002951.5(RPN2):c.1578T>C (p.Ile526=)
NM_002951.5(RPN2):c.1593C>G (p.Arg531=)
NM_002951.5(RPN2):c.1593C>T (p.Arg531=)
NM_002951.5(RPN2):c.1617C>T (p.Thr539=)
NM_002951.5(RPN2):c.166G>A (p.Val56Met)
NM_002951.5(RPN2):c.1677+19C>T
NM_002951.5(RPN2):c.1678-4T>C
NM_002951.5(RPN2):c.1839G>A (p.Thr613=)
NM_002951.5(RPN2):c.1883+13A>G
NM_002951.5(RPN2):c.207+17C>T
NM_002951.5(RPN2):c.303+14C>G rs6104015
NM_002951.5(RPN2):c.321G>A (p.Glu107=) rs2067319229
NM_002951.5(RPN2):c.479+15C>T
NM_002951.5(RPN2):c.480-18C>G
NM_002951.5(RPN2):c.484G>A (p.Val162Ile)
NM_002951.5(RPN2):c.504A>G (p.Ala168=)
NM_002951.5(RPN2):c.693T>C (p.Asp231=) rs1600785623
NM_002951.5(RPN2):c.78T>A (p.Thr26=)
NM_002951.5(RPN2):c.804C>T (p.His268=)
NM_002951.5(RPN2):c.886C>T (p.Leu296=)
NM_002951.5(RPN2):c.981T>A (p.Pro327=) rs2146608181

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