ClinVar Miner

List of variants in gene LOC130061900, SGSH studied for mucopolysaccharidosis

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087 0.00029
NM_000199.4(SGSH):c.-23C>T rs533566888 0.00014
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr) rs548145029 0.00013
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.-12G>A rs1598772757
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.11C>T (p.Pro4Leu)
NM_000199.5(SGSH):c.12C>A (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.15G>A (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.15G>C (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.15G>T (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.18C>T (p.Pro6=)
NM_000199.5(SGSH):c.1A>C (p.Met1Leu) rs1250300189
NM_000199.5(SGSH):c.2T>G (p.Met1Arg) rs1488660868
NM_000199.5(SGSH):c.7T>C (p.Cys3Arg)
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
NM_000199.5(SGSH):c.9C>T (p.Cys3=) rs2144833432

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