List of variants reported as uncertain significance for syndromic dyslipidemia by New York Genome Center

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 58

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HGVS	dbSNP	gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_033419.5(PGAP3):c.*559C>T	rs183208638	0.00300
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	rs147181589	0.00175
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	rs144973796	0.00127
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	rs201889290	0.00106
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)	rs140690030	0.00103
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)	rs142192097	0.00097
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	rs143999854	0.00093
NM_022437.3(ABCG8):c.1411+8T>A	rs201991639	0.00078
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)	rs147242592	0.00076
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)	rs120074114	0.00071
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)	rs201685731	0.00049
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	rs142125966	0.00047
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)	rs147098410	0.00040
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	rs199984328	0.00025
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)	rs149441561	0.00023
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)	rs151334741	0.00020
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)	rs116403115	0.00016
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	rs149418765	0.00015
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	rs373957283	0.00013
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg)	rs142165666	0.00011
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=)	rs371163697	0.00008
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)	rs140686447	0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	rs140929996	0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	rs777466386	0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	rs143402711	0.00004
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)	rs547583131	0.00004
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)	rs149439295	0.00003
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln)	rs751809765	0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)	rs548098742	0.00002
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)	rs138408240	0.00001
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile)	rs373857537	0.00001
NM_022437.3(ABCG8):c.1943T>C (p.Ile648Thr)	rs1319856628	0.00001
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp)	rs775262569	0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val)	rs777439274	0.00001
NM_000041.4(APOE):c.31A>G (p.Thr11Ala)
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	rs2228159
NM_000237.3(LPL):c.1379C>T (p.Ala460Val)
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln)
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
NM_000483.5(APOC2):c.-14+8A>G
NM_001360.3(DHCR7):c.626+1013G>A
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr)	rs1440750558
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	rs142351862
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg)	rs1933665377
NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	rs72542426
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)	rs558635043
NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu)
NM_022437.3(ABCG8):c.818G>A (p.Arg273His)
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	rs145844329

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