ClinVar Miner

List of variants reported as likely benign for hyperphosphatasia with intellectual disability syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu) rs79448900 0.00309
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171 0.00019
NM_001346754.2(PIGW):c.1080T>C (p.Asn360=) rs138980777 0.00017
NM_001346754.2(PIGW):c.909C>T (p.Arg303=) rs199843214 0.00013
NM_001346754.2(PIGW):c.570T>C (p.Tyr190=) rs371568140 0.00008
NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr) rs540887439 0.00007
NM_001346754.2(PIGW):c.798C>T (p.Leu266=) rs368650542 0.00007
NM_001346754.2(PIGW):c.1293C>T (p.Ala431=) rs138225253 0.00006
NM_001346754.2(PIGW):c.405T>C (p.Ile135=) rs150604569 0.00006
NM_001346754.2(PIGW):c.1065C>T (p.Tyr355=) rs776190334 0.00004
NM_001346754.2(PIGW):c.906C>T (p.Asn302=) rs201897072 0.00004
NM_001346754.2(PIGW):c.1404A>G (p.Thr468=) rs149579850 0.00003
NM_001346754.2(PIGW):c.1479A>C (p.Val493=) rs371978705 0.00003
NM_001346754.2(PIGW):c.1068A>G (p.Val356=) rs781391447 0.00002
NM_001346754.2(PIGW):c.1410C>T (p.His470=) rs773413994 0.00002
NM_001346754.2(PIGW):c.144T>C (p.Ser48=) rs375324713 0.00002
NM_001346754.2(PIGW):c.1482A>G (p.Leu494=) rs369942986 0.00002
NM_001346754.2(PIGW):c.1497G>A (p.Lys499=) rs772409187 0.00002
NM_001346754.2(PIGW):c.186T>C (p.Val62=) rs951359490 0.00002
NM_001346754.2(PIGW):c.216G>A (p.Leu72=) rs763524260 0.00002
NM_001346754.2(PIGW):c.69C>T (p.Thr23=) rs760295760 0.00002
NM_001346754.2(PIGW):c.963A>G (p.Gln321=) rs1213857166 0.00002
NM_001346754.2(PIGW):c.1183T>C (p.Leu395=) rs2074171167 0.00001
NM_001346754.2(PIGW):c.1185G>A (p.Leu395=) rs757548701 0.00001
NM_001346754.2(PIGW):c.1290A>G (p.Glu430=) rs761899647 0.00001
NM_001346754.2(PIGW):c.153T>C (p.Pro51=) rs748068199 0.00001
NM_001346754.2(PIGW):c.171C>T (p.Phe57=) rs1367907051 0.00001
NM_001346754.2(PIGW):c.222T>C (p.Ile74=) rs1161394776 0.00001
NM_001346754.2(PIGW):c.252C>T (p.Leu84=) rs370251219 0.00001
NM_001346754.2(PIGW):c.462A>G (p.Arg154=) rs1170311490 0.00001
NM_001346754.2(PIGW):c.537A>G (p.Ala179=) rs747729830 0.00001
NM_001346754.2(PIGW):c.607T>C (p.Leu203=) rs747549803 0.00001
NM_001346754.2(PIGW):c.624A>G (p.Pro208=) rs776949283 0.00001
NM_001346754.2(PIGW):c.634C>T (p.Leu212=) rs1177424625 0.00001
NM_001346754.2(PIGW):c.642C>T (p.Ile214=) rs775786836 0.00001
NM_001346754.2(PIGW):c.759G>A (p.Leu253=) rs145509687 0.00001
NM_001346754.2(PIGW):c.768T>C (p.Phe256=) rs35139532 0.00001
NM_001346754.2(PIGW):c.777T>C (p.Asn259=) rs774528615 0.00001
NM_001346754.2(PIGW):c.801C>T (p.Gly267=) rs752485582 0.00001
NM_001346754.2(PIGW):c.879C>T (p.Gly293=) rs749642382 0.00001
NM_001346754.2(PIGW):c.894A>G (p.Leu298=) rs1483319678 0.00001
NM_001346754.2(PIGW):c.924T>C (p.Ser308=) rs766989656 0.00001
NM_001346754.2(PIGW):c.100C>T (p.Leu34=) rs1599476133
NM_001346754.2(PIGW):c.102G>A (p.Leu34=) rs2510225924
NM_001346754.2(PIGW):c.1110T>C (p.Asn370=) rs1203780630
NM_001346754.2(PIGW):c.1194C>T (p.Ala398=) rs2510228794
NM_001346754.2(PIGW):c.1242C>T (p.Ile414=)
NM_001346754.2(PIGW):c.1266G>A (p.Lys422=)
NM_001346754.2(PIGW):c.1269T>C (p.His423=)
NM_001346754.2(PIGW):c.126C>T (p.Phe42=)
NM_001346754.2(PIGW):c.1284C>A (p.Val428=) rs764343019
NM_001346754.2(PIGW):c.1297A>C (p.Arg433=) rs1240970102
NM_001346754.2(PIGW):c.12G>A (p.Lys4=) rs2074150554
NM_001346754.2(PIGW):c.132G>A (p.Gln44=) rs1555600210
NM_001346754.2(PIGW):c.1335C>T (p.Asn445=) rs777402145
NM_001346754.2(PIGW):c.1359G>A (p.Leu453=) rs906334984
NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=) rs2510229210
NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=) rs2074175795
NM_001346754.2(PIGW):c.147T>C (p.Phe49=) rs2142614109
NM_001346754.2(PIGW):c.1514G>A (p.Ter505=) rs2510229333
NM_001346754.2(PIGW):c.156C>G (p.Thr52=) rs772050144
NM_001346754.2(PIGW):c.190C>T (p.Leu64=) rs2074154409
NM_001346754.2(PIGW):c.213T>G (p.Thr71=) rs764647885
NM_001346754.2(PIGW):c.234T>C (p.Phe78=) rs767714420
NM_001346754.2(PIGW):c.294C>T (p.Tyr98=) rs1358004820
NM_001346754.2(PIGW):c.345A>G (p.Lys115=)
NM_001346754.2(PIGW):c.360T>C (p.Ser120=) rs1191251061
NM_001346754.2(PIGW):c.369A>C (p.Ser123=)
NM_001346754.2(PIGW):c.408C>T (p.Thr136=)
NM_001346754.2(PIGW):c.414G>A (p.Ala138=)
NM_001346754.2(PIGW):c.495A>G (p.Gly165=)
NM_001346754.2(PIGW):c.54C>G (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.54C>T (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.58C>T (p.Leu20=) rs1439603716
NM_001346754.2(PIGW):c.600A>G (p.Thr200=) rs2510227342
NM_001346754.2(PIGW):c.684T>C (p.His228=) rs1426728899
NM_001346754.2(PIGW):c.699A>T (p.Gly233=) rs2510227510
NM_001346754.2(PIGW):c.723C>A (p.Thr241=) rs764733103
NM_001346754.2(PIGW):c.723C>T (p.Thr241=) rs764733103
NM_001346754.2(PIGW):c.750A>G (p.Pro250=) rs2510227667
NM_001346754.2(PIGW):c.810A>G (p.Val270=) rs1314718849
NM_001346754.2(PIGW):c.813A>G (p.Leu271=)
NM_001346754.2(PIGW):c.820C>T (p.Leu274=)
NM_001346754.2(PIGW):c.840A>G (p.Ser280=) rs948348209
NM_001346754.2(PIGW):c.841C>T (p.Leu281=) rs2142618552
NM_001346754.2(PIGW):c.849G>A (p.Arg283=) rs1165950778
NM_001346754.2(PIGW):c.856T>C (p.Leu286=) rs2074165957
NM_001346754.2(PIGW):c.858A>G (p.Leu286=) rs750915031
NM_001346754.2(PIGW):c.870T>C (p.Asp290=)
NM_001346754.2(PIGW):c.885G>C (p.Arg295=) rs1199890294
NM_001346754.2(PIGW):c.891T>G (p.Gly297=) rs2074166383
NM_001346754.2(PIGW):c.894A>C (p.Leu298=) rs1483319678
NM_001346754.2(PIGW):c.966A>G (p.Thr322=) rs754169928
NM_001346754.2(PIGW):c.966A>T (p.Thr322=) rs754169928
NM_001346754.2(PIGW):c.980A>G (p.His327Arg) rs528500343

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