ClinVar Miner

List of variants in gene GNPTAB reported as uncertain significance for Pseudo-Hurler polydystrophy

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.*839C>T rs191482020 0.00347
NM_024312.5(GNPTAB):c.*646G>T rs182829610 0.00309
NM_024312.5(GNPTAB):c.*1390G>C rs143769734 0.00290
NM_024312.5(GNPTAB):c.*1109G>T rs186237335 0.00148
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_024312.5(GNPTAB):c.-33C>T rs372860805 0.00060
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.1269C>T (p.His423=) rs111863978 0.00036
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231 0.00034
NM_024312.5(GNPTAB):c.*1464A>G rs180899224 0.00031
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.*1160G>A rs543036320 0.00025
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln) rs150841760 0.00016
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.*739T>C rs111500504 0.00011
NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn) rs558911370 0.00008
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.*436G>A rs886048846 0.00004
NM_024312.5(GNPTAB):c.*478C>T rs962503597 0.00004
NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=) rs534858651 0.00004
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972 0.00004
NM_024312.5(GNPTAB):c.*103G>A rs1024195463 0.00003
NM_024312.5(GNPTAB):c.*63C>T rs867058692 0.00003
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=) rs749134354 0.00003
NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=) rs750876420 0.00002
NM_024312.5(GNPTAB):c.1113+12T>G rs757949849 0.00002
NM_024312.5(GNPTAB):c.1661A>G (p.His554Arg) rs139066897 0.00002
NM_024312.5(GNPTAB):c.3194T>C (p.Ile1065Thr) rs755148701 0.00002
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val) rs746860631 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024312.5(GNPTAB):c.*1093C>G rs886048842 0.00001
NM_024312.5(GNPTAB):c.*1550C>A rs1455978047 0.00001
NM_024312.5(GNPTAB):c.*557A>T rs1329590638 0.00001
NM_024312.5(GNPTAB):c.*911A>G rs1165242829 0.00001
NM_024312.5(GNPTAB):c.1114-14G>A rs776493814 0.00001
NM_024312.5(GNPTAB):c.3250-12A>G rs745938838 0.00001
NM_024312.5(GNPTAB):c.3286C>T (p.Pro1096Ser) rs765553769 0.00001
NM_024312.5(GNPTAB):c.3306C>G (p.His1102Gln) rs886048850 0.00001
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=) rs1451696033 0.00001
NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile) rs772131427 0.00001
NM_024312.5(GNPTAB):c.3693G>C (p.Gln1231His) rs886048849 0.00001
NM_024312.5(GNPTAB):c.386T>C (p.Leu129Ser) rs1868637420 0.00001
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg) rs529994474 0.00001
NM_024312.5(GNPTAB):c.863T>C (p.Met288Thr) rs753544044 0.00001
NM_024312.5(GNPTAB):c.866C>G (p.Thr289Ser) rs138289260 0.00001
NM_024312.5(GNPTAB):c.*1033C>G rs868403966
NM_024312.5(GNPTAB):c.*1243C>T rs953067777
NM_024312.5(GNPTAB):c.*1370C>T rs1952724925
NM_024312.5(GNPTAB):c.*51A>C rs886048848
NM_024312.5(GNPTAB):c.*842T>G rs886048844
NM_024312.5(GNPTAB):c.1091G>C (p.Arg364Pro) rs200784803
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.117+15C>T rs886048854
NM_024312.5(GNPTAB):c.1252G>A (p.Asp418Asn) rs1953148000
NM_024312.5(GNPTAB):c.1427G>C (p.Arg476Pro) rs1224060861
NM_024312.5(GNPTAB):c.1613-3T>C rs1303293752
NM_024312.5(GNPTAB):c.2166C>T (p.Asp722=) rs952078439
NM_024312.5(GNPTAB):c.2225A>G (p.Asn742Ser) rs886048851
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del) rs281864952
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.2660G>A (p.Ser887Asn) rs2137115941
NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=) rs1953000723
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.2987C>A (p.Ser996Tyr) rs1010106898
NM_024312.5(GNPTAB):c.30C>G (p.Thr10=) rs1871323193
NM_024312.5(GNPTAB):c.3115G>C (p.Glu1039Gln) rs201356176
NM_024312.5(GNPTAB):c.3250-8T>C rs1952924076
NM_024312.5(GNPTAB):c.3460A>G (p.Ile1154Val) rs1393719423
NM_024312.5(GNPTAB):c.3758G>A (p.Arg1253Gln) rs778120023
NM_024312.5(GNPTAB):c.381G>A (p.Glu127=) rs1185319004
NM_024312.5(GNPTAB):c.43T>C (p.Ser15Pro)
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg) rs142302101
NM_024312.5(GNPTAB):c.630C>T (p.Gly210=) rs886038684
NM_024312.5(GNPTAB):c.703C>G (p.Pro235Ala) rs886048852
NM_024312.5(GNPTAB):c.772-7T>G rs1953168565
NM_024312.5(GNPTAB):c.805C>G (p.Leu269Val) rs1953167968

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