List of variants in gene SAMHD1 reported as likely pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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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.427C>T (p.Arg143Cys)	rs387906948	0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	rs267607027	0.00001
NM_015474.4(SAMHD1):c.509+1G>A	rs1192315307	0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)	rs121434516	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
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	rs768409471
NM_015474.4(SAMHD1):c.1608+1G>A	rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)	rs1990238054
NM_015474.4(SAMHD1):c.1609-2A>G	rs1700306908
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)	rs149846637
NM_015474.4(SAMHD1):c.349-1G>A	rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T	rs2146137671
NM_015474.4(SAMHD1):c.625+1G>A	rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C	rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.697-1G>T	rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T	rs780504624
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.953+1G>A	rs2146117027
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)

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