ClinVar Miner

List of variants in gene PRG4 studied for autosomal recessive disease

Included ClinVar conditions (1196):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala) rs61831150 0.31104
NM_005807.6(PRG4):c.538C>T (p.Arg180Trp) rs2273779 0.29059
NM_005807.6(PRG4):c.3138A>G (p.Pro1046=) rs3737940 0.27761
NM_005807.6(PRG4):c.1737T>C (p.Thr579=) rs778925933 0.02340
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) rs773621375 0.00002
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs) rs780281715 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NC_000001.10:g.(?_186265850)_(186266785_?)del
NM_005807.6(PRG4):c.-30-30T>A rs1293987
NM_005807.6(PRG4):c.1134dup (p.Lys379fs)
NM_005807.6(PRG4):c.1194del (p.Thr399fs) rs748663740
NM_005807.6(PRG4):c.1320dup (p.Lys441fs) rs1557943002
NM_005807.6(PRG4):c.1699del (p.Glu567fs)
NM_005807.6(PRG4):c.1911del (p.Glu638fs) rs1571569884
NM_005807.6(PRG4):c.1935del (p.Glu646fs) rs2102025845
NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter) rs776645239
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs) rs763025365
NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)
NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs) rs1475926873
NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs) rs2102028973
NM_005807.6(PRG4):c.301G>T (p.Glu101Ter) rs748999850
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) rs1571575523
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) rs769917456
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs) rs1258207620
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) rs768053349
NM_005807.6(PRG4):c.3486dup (p.Val1163fs) rs2102031816
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) rs1657192119
NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs) rs1657235121
NM_005807.6(PRG4):c.849del (p.Val284fs) rs1571563202
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter) rs2102020754
PRG4, 2-BP DEL, NT3023
PRG4, IVS6, 41-BP INS

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