ClinVar Miner

List of variants studied for Glycogen storage disease IXc by Illumina Laboratory Services, Illumina

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000294.2(PHKG2):c.-114T>C rs11863277 0.97872
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000294.3(PHKG2):c.-28G>T rs556945561 0.00070
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_000294.3(PHKG2):c.*22C>T rs372172604 0.00031
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610 0.00024
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151 0.00017
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581 0.00012
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139 0.00006
NM_000294.3(PHKG2):c.556+5G>T rs369684098 0.00005
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) rs373915359 0.00004
NM_000294.3(PHKG2):c.*47G>A rs767591090 0.00003
NM_000294.3(PHKG2):c.-3A>G rs1049581523 0.00002
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) rs746361026 0.00002
NM_000294.2(PHKG2):c.-106G>A rs879382458 0.00001
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) rs192866993 0.00001
NM_000294.3(PHKG2):c.95+11G>A rs886051910 0.00001
NM_000294.2(PHKG2):c.-118G>A rs1361898035
NM_000294.2(PHKG2):c.-162C>T rs938838075
NM_000294.3(PHKG2):c.-76G>C rs2053281054
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) rs747926397
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.556+11C>G rs2053379816
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.96-7C>G rs898984695

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