ClinVar Miner

List of variants in gene CRH reported by Ambry Genetics

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000756.4(CRH):c.288A>C (p.Gly96=) rs6159 0.33750
NM_000756.4(CRH):c.51G>C (p.Leu17=) rs72556398 0.01283
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489 0.00126
NM_000756.4(CRH):c.438G>A (p.Glu146=) rs146547215 0.00004
NM_000756.4(CRH):c.239A>G (p.Asn80Ser) rs780597345 0.00002
NM_000756.4(CRH):c.146CGC[4] (p.Pro51dup) rs562792458
NM_000756.4(CRH):c.157_180dup (p.Gln60_Ala61insSerGluGlnProGlnGlnProGln)
NM_000756.4(CRH):c.202A>T (p.Met68Leu)
NM_000756.4(CRH):c.329A>G (p.Asn110Ser)
NM_000756.4(CRH):c.340G>C (p.Val114Leu)
NM_000756.4(CRH):c.367C>G (p.Arg123Gly)
NM_000756.4(CRH):c.394C>G (p.Leu132Val)
NM_000756.4(CRH):c.421C>G (p.Leu141Val)
NM_000756.4(CRH):c.424G>A (p.Gly142Ser)
NM_000756.4(CRH):c.468G>A (p.Glu156=)
NM_000756.4(CRH):c.529G>A (p.Ala177Thr)
NM_000756.4(CRH):c.52C>T (p.Pro18Ser)
NM_000756.4(CRH):c.579T>C (p.Ile193=) rs1563402708

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