List of variants studied for syndromic dyslipidemia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00018
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	rs374434303	0.00006
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)	rs752545577	0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)	rs568356836	0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	rs753960624	0.00001
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G	rs781795144
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)	rs1555518481
NM_000431.4(MVK):c.768+4A>G	rs1295630463
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu)	rs757141700
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu)	rs1599305317
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	rs1555945553

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