ClinVar Miner

List of variants in gene CTRC reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.640-35G>T rs10927786 0.34421
NM_007272.3(CTRC):c.493+51C>A rs10803384 0.21273
NM_007272.3(CTRC):c.356+71G>A rs3765373 0.11168
NM_007272.3(CTRC):c.493+52G>A rs545634 0.10881
NM_007272.3(CTRC):c.493+49G>C rs6679763 0.04268
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.514A>G (p.Lys172Glu) rs34949635 0.02786
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02352
NM_007272.3(CTRC):c.230+38C>T rs115742618 0.01455
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_007272.3(CTRC):c.793-42G>A rs201856611 0.00267
NM_007272.3(CTRC):c.793-45G>T rs199740500 0.00267
NM_007272.3(CTRC):c.357-44C>G rs200242846 0.00093
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078
NM_007272.3(CTRC):c.640-34del rs373970317

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