ClinVar Miner

List of variants reported as likely benign for Multiple sulfatase deficiency by Natera, Inc.

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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.722A>G (p.Asn241Ser) rs138045351 0.00080
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.48G>C (p.Leu16=) rs921740271 0.00001
NM_182760.4(SUMF1):c.78G>A (p.Ser26=) rs534380202 0.00001
NM_182760.4(SUMF1):c.258C>G (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.954+7A>G rs560003466

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