ClinVar Miner

List of variants reported as likely pathogenic for mucopolysaccharidosis type 3A by Counsyl

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.664-1G>T rs1555621425

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