List of variants in gene SAMHD1 reported as likely pathogenic for cutaneous lupus erythematosus

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)	rs774964432	0.00004
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	rs138603088	0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)	rs139804668	0.00002
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)	rs752442185	0.00001
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)	rs1300333132	0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)	rs768019897	0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)	rs1335417539	0.00001
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	rs768409471
NM_015474.4(SAMHD1):c.1615C>T (p.Gln539Ter)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)	rs923362391
NM_015474.4(SAMHD1):c.664_673del (p.Ile222fs)
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)

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