ClinVar Miner

List of variants in gene SYNE2 reported as likely benign by Eurofins NTD LLC (GA)

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_182914.3(SYNE2):c.6714+3G>A rs142902034 0.00337
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732 0.00262
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017 0.00250
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00235
NM_182914.3(SYNE2):c.16095-10G>A rs139126909 0.00225
NM_182914.3(SYNE2):c.5395T>C (p.Leu1799=) rs186427714 0.00207
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=) rs143686889 0.00101
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr) rs192061494 0.00096
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182914.3(SYNE2):c.18723+8C>T rs200853043 0.00041
NM_182914.3(SYNE2):c.6714+6G>T rs191541575 0.00026
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His) rs140940287 0.00017
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227 0.00007
NM_182914.3(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293 0.00006
NM_182914.3(SYNE2):c.1129-6_1129-4dup rs34440267
NM_182914.3(SYNE2):c.1129-7_1129-4del rs34440267

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