ClinVar Miner

List of variants studied for mucosulfatidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.*471T>G rs2259818 0.97410
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.*675A>C rs14275 0.61157
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_182760.4(SUMF1):c.*291G>A rs4685744 0.42078
NM_182760.4(SUMF1):c.*214A>G rs2819562 0.39192
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_182760.4(SUMF1):c.*292T>A rs74979662 0.03368
NM_182760.4(SUMF1):c.*552T>G rs10514655 0.03190
NM_182760.4(SUMF1):c.*518T>C rs17040504 0.02173
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_182760.4(SUMF1):c.*805C>T rs79031951 0.01466
NM_182760.4(SUMF1):c.*917G>T rs116661242 0.01035
NM_182760.4(SUMF1):c.*189G>A rs116820538 0.00972
NM_182760.4(SUMF1):c.*92A>G rs150796088 0.00972
NM_182760.4(SUMF1):c.-9C>T rs148200251 0.00803
NM_182760.4(SUMF1):c.*210C>T rs115376966 0.00791
NM_182760.4(SUMF1):c.841-14G>A rs9852367 0.00720
NM_182760.4(SUMF1):c.*396C>G rs113056454 0.00498
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_182760.4(SUMF1):c.*445A>G rs114640216 0.00247
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_182760.4(SUMF1):c.*140C>T rs189928088 0.00164
NM_182760.4(SUMF1):c.*548T>C rs185598903 0.00150
NM_182760.4(SUMF1):c.*836C>G rs140229372 0.00129
NM_182760.4(SUMF1):c.*398C>T rs116909525 0.00111
NM_182760.4(SUMF1):c.*948C>T rs141075396 0.00077
NM_182760.4(SUMF1):c.*305C>G rs141387556 0.00075
NM_182760.4(SUMF1):c.*874C>T rs145484019 0.00056
NM_182760.4(SUMF1):c.*463G>T rs930735447 0.00054
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_182760.4(SUMF1):c.*297C>T rs111257010 0.00038
NM_182760.4(SUMF1):c.*949G>A rs575414528 0.00038
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_182760.4(SUMF1):c.602+12C>T rs200971871 0.00029
NM_182760.4(SUMF1):c.*976A>G rs886058510 0.00021
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.*953C>T rs571869267 0.00014
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182760.4(SUMF1):c.*152C>G rs560350613 0.00013
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231 0.00009
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala) rs141447969 0.00008
NM_182760.4(SUMF1):c.*150G>A rs185951165 0.00006
NM_182760.4(SUMF1):c.*821G>A rs184134840 0.00006
NM_182760.4(SUMF1):c.271-7A>G rs371283922 0.00006
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe) rs552583949 0.00006
NM_182760.4(SUMF1):c.*820C>T rs137921931 0.00005
NM_182760.4(SUMF1):c.726-14G>T rs370793169 0.00004
NM_182760.4(SUMF1):c.1014+12C>T rs776947608 0.00002
NM_182760.4(SUMF1):c.483G>T (p.Met161Ile) rs369923156 0.00002
NM_182760.4(SUMF1):c.*279C>T rs1699769914 0.00001
NM_182760.4(SUMF1):c.*639T>C rs886058514 0.00001
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521 0.00001
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680 0.00001
NM_182760.4(SUMF1):c.30T>C (p.Cys10=) rs746169425 0.00001
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=) rs1460272243 0.00001
NM_182760.3(SUMF1):c.-25C>G rs780263159
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*218T>C rs532640038
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*568G>C rs73022033
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*67A>T rs1699779739
NM_182760.4(SUMF1):c.*692A>G rs886058513
NM_182760.4(SUMF1):c.*809C>T rs886058512
NM_182760.4(SUMF1):c.*819G>A rs886058511
NM_182760.4(SUMF1):c.*828G>A rs145383154
NM_182760.4(SUMF1):c.*948C>G rs141075396
NM_182760.4(SUMF1):c.*95C>T rs1699776293
NM_182760.4(SUMF1):c.*982G>A rs151120160
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.306C>T (p.Gly102=) rs1434264703
NM_182760.4(SUMF1):c.464C>G (p.Ser155Cys) rs1702889459
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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