ClinVar Miner

List of variants reported as not provided for syndromic dyslipidemia by GeneReviews

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) rs587777184
NM_001360.3(DHCR7):c.832-1G>C rs80338863
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064

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