ClinVar Miner

List of variants reported as benign for Norman-Roberts syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.4(RELN):c.4937-14_4937-13dup rs35268159
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862

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