List of variants in gene SAMHD1 reported as benign for connective tissue disorder

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.276-105C>A	rs6030312	0.44115
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)	rs147240777	0.00252
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)	rs7271776	0.00206
NM_015474.4(SAMHD1):c.348+18T>G	rs181987130	0.00206
NM_015474.3(SAMHD1):c.-166G>T	rs546207604	0.00197
NM_015474.3(SAMHD1):c.-110T>C	rs28372906	0.00188
NM_015474.4(SAMHD1):c.275+8T>A	rs186225001	0.00086
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)	rs145735112	0.00041
NM_015474.4(SAMHD1):c.-31T>C	rs142162198	0.00038
NM_015474.4(SAMHD1):c.-39C>A	rs368233437	0.00038
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)	rs200856791	0.00026
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)	rs202024857	0.00011
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)	rs775762131	0.00007
NM_015474.4(SAMHD1):c.-10A>G	rs199721283	0.00006
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)	rs373079404	0.00002
NM_015474.4(SAMHD1):c.1609-2del
NM_015474.4(SAMHD1):c.510-18del	rs772577201
NM_015474.4(SAMHD1):c.626-64_626-63del	rs529639777

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