ClinVar Miner

List of variants in gene PXYLP1

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001037172.3(PXYLP1):c.1294A>G (p.Thr432Ala) rs142918405 0.00014
NM_001037172.3(PXYLP1):c.158C>T (p.Thr53Met) rs139938375 0.00009
NM_001037172.3(PXYLP1):c.1360C>T (p.Arg454Cys) rs746543119 0.00008
NM_001037172.3(PXYLP1):c.44C>T (p.Ala15Val) rs374587080 0.00005
NM_001037172.3(PXYLP1):c.700C>T (p.His234Tyr) rs372638475 0.00004
NM_001037172.3(PXYLP1):c.716T>C (p.Leu239Pro) rs981426895 0.00004
NM_001037172.3(PXYLP1):c.1150C>A (p.Pro384Thr) rs114644481 0.00003
NM_001037172.3(PXYLP1):c.1315C>T (p.His439Tyr) rs754283669 0.00003
NM_001037172.3(PXYLP1):c.1316A>T (p.His439Leu) rs757645831 0.00003
NM_001037172.3(PXYLP1):c.286C>T (p.Arg96Cys) rs1040143705 0.00003
NM_001037172.3(PXYLP1):c.779G>A (p.Arg260His) rs146787521 0.00002
NM_001037172.3(PXYLP1):c.853C>T (p.Pro285Ser) rs374675098 0.00002
NM_001037172.3(PXYLP1):c.1343C>T (p.Pro448Leu) rs747628473 0.00001
NM_001037172.3(PXYLP1):c.1361G>A (p.Arg454His) rs774417581 0.00001
NM_001037172.3(PXYLP1):c.311A>G (p.Tyr104Cys) rs200014913 0.00001
NM_001037172.3(PXYLP1):c.433G>A (p.Glu145Lys) rs754179505 0.00001
NM_001037172.3(PXYLP1):c.794G>A (p.Arg265His) rs140468634 0.00001
NM_001037172.3(PXYLP1):c.1027G>A (p.Gly343Arg)
NM_001037172.3(PXYLP1):c.1063C>G (p.Gln355Glu)
NM_001037172.3(PXYLP1):c.1093G>A (p.Glu365Lys)
NM_001037172.3(PXYLP1):c.1250A>G (p.His417Arg)
NM_001037172.3(PXYLP1):c.1258C>T (p.Arg420Trp)
NM_001037172.3(PXYLP1):c.1279G>A (p.Asp427Asn)
NM_001037172.3(PXYLP1):c.1322G>T (p.Arg441Leu) rs114061733
NM_001037172.3(PXYLP1):c.1388C>T (p.Ala463Val)
NM_001037172.3(PXYLP1):c.1434A>T (p.Glu478Asp) rs373057932
NM_001037172.3(PXYLP1):c.1435G>A (p.Gly479Arg) rs2473147073
NM_001037172.3(PXYLP1):c.163C>G (p.Pro55Ala)
NM_001037172.3(PXYLP1):c.16C>T (p.Arg6Cys)
NM_001037172.3(PXYLP1):c.232A>C (p.Met78Leu)
NM_001037172.3(PXYLP1):c.320C>T (p.Pro107Leu) rs775047388
NM_001037172.3(PXYLP1):c.323A>G (p.Lys108Arg) rs1035570616
NM_001037172.3(PXYLP1):c.371C>T (p.Pro124Leu)
NM_001037172.3(PXYLP1):c.541A>T (p.Arg181Trp) rs2473137409
NM_001037172.3(PXYLP1):c.589G>A (p.Ala197Thr) rs376085639
NM_001037172.3(PXYLP1):c.713C>T (p.Ala238Val) rs753267121
NM_001037172.3(PXYLP1):c.727G>A (p.Gly243Arg) rs2473139624
NM_001037172.3(PXYLP1):c.745G>T (p.Val249Leu)
NM_001037172.3(PXYLP1):c.892A>G (p.Met298Val) rs1266270324

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