ClinVar Miner

List of variants in gene SZT2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=) rs561698107 0.00032
NM_001365999.1(SZT2):c.368A>G (p.His123Arg) rs147519875 0.00021
NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) rs144218947 0.00013
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His) rs150591561 0.00013
NM_001365999.1(SZT2):c.5390C>T (p.Ala1797Val) rs201307513 0.00011
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) rs143185010 0.00008
NM_001365999.1(SZT2):c.5680C>T (p.Arg1894Trp) rs761963698 0.00007
NM_001365999.1(SZT2):c.7802G>A (p.Arg2601His) rs757425191 0.00006
NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala) rs200612162 0.00005
NM_001365999.1(SZT2):c.4414C>T (p.Arg1472Trp) rs775105626 0.00005
NM_001365999.1(SZT2):c.2500G>A (p.Ala834Thr) rs753359197 0.00004
NM_001365999.1(SZT2):c.4720C>T (p.Arg1574Trp) rs79351309 0.00004
NM_001365999.1(SZT2):c.74G>A (p.Arg25Gln) rs760528024 0.00003
NM_001365999.1(SZT2):c.7816C>T (p.Arg2606Trp) rs754730352 0.00003
NM_001365999.1(SZT2):c.4309-3C>T rs376401769 0.00002
NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His) rs777078813 0.00002
NM_001365999.1(SZT2):c.7267T>C (p.Phe2423Leu) rs755853594 0.00002
NM_001365999.1(SZT2):c.1738C>G (p.His580Asp) rs780965558 0.00001
NM_001365999.1(SZT2):c.1765G>T (p.Asp589Tyr) rs1169459726 0.00001
NM_001365999.1(SZT2):c.2468C>T (p.Thr823Ile) rs766349361 0.00001
NM_001365999.1(SZT2):c.7033A>G (p.Ser2345Gly) rs182184747 0.00001
NM_001365999.1(SZT2):c.8479C>T (p.Pro2827Ser) rs762098815 0.00001
NM_001365999.1(SZT2):c.8669C>T (p.Pro2890Leu) rs757574042 0.00001
NM_001365999.1(SZT2):c.1915C>A (p.Leu639Ile)
NM_001365999.1(SZT2):c.2135G>A (p.Gly712Glu) rs1219555045
NM_001365999.1(SZT2):c.2932T>C (p.Leu978=) rs1064797110
NM_001365999.1(SZT2):c.3215-5T>C rs771760450
NM_001365999.1(SZT2):c.3916C>G (p.Arg1306Gly) rs760099699
NM_001365999.1(SZT2):c.4511A>C (p.Glu1504Ala) rs1570668157
NM_001365999.1(SZT2):c.6331G>A (p.Asp2111Asn) rs2153935054
NM_001365999.1(SZT2):c.7270C>G (p.Pro2424Ala) rs748903787
NM_001365999.1(SZT2):c.7765G>A (p.Gly2589Ser) rs780094265
NM_001365999.1(SZT2):c.8711G>A (p.Arg2904His) rs769574689
NM_001365999.1(SZT2):c.9359C>A (p.Ser3120Tyr) rs2153936812

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