ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.33C>T (p.Ala11=) rs35799536 0.00003
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.78T>G (p.Gly26=) rs373379910 0.00001
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717

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