ClinVar Miner

List of variants in gene combination LOC126860797, NSMF reported as likely benign by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001130969.3(NSMF):c.1496-9T>C rs200465164 0.00101
NM_001130969.3(NSMF):c.1237-20C>T rs373753939 0.00012
NM_001130969.3(NSMF):c.1419+3A>G rs369199677 0.00006
NM_001130969.3(NSMF):c.1237-10C>T rs755837412 0.00003
NM_001130969.3(NSMF):c.1368C>T (p.Asn456=) rs200918564 0.00003
NM_001130969.3(NSMF):c.1524C>T (p.Asp508=) rs746415448 0.00002
NM_001130969.3(NSMF):c.1237-11G>A rs779862169 0.00001
NM_001130969.3(NSMF):c.1316+16C>T rs921204278 0.00001
NM_001130969.3(NSMF):c.1350A>G (p.Lys450=) rs1386458232 0.00001
NM_001130969.3(NSMF):c.1496-7C>T rs371043760 0.00001
NM_001130969.3(NSMF):c.1581C>T (p.Asp527=) rs369489711 0.00001
NM_001130969.3(NSMF):c.1461C>T (p.Val487=)
NM_001130969.3(NSMF):c.1515G>A (p.Thr505=) rs778638506

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