ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C by Natera, Inc.

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Total variants: 39
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HGVS dbSNP
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)

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